Effective Dates: 8/12/2024 - Present

Identification Number:	DI 23022 TN 73
Intended Audience:	See Transmittal Sheet
Originating Office:	ORDP ODP
Title:	Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)
Type:	POMS Full Transmittals
Program:	All Programs
Link To Reference:

PROGRAM OPERATIONS MANUAL SYSTEM

Part DI – Disability Insurance

Chapter 230 – Special Issues

Subchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)

Transmittal No. 73, 08/06/2024

Audience

PSC: CS, DEC, DTE, IES, RECONR;

OCO-OEIO: CR, ERE, FCR, FDE, RECONE;

OCO-ODO: DE, DEC, DS, RECONE;

ODD-DDS: ADJ, DHU;

Originating Component

ODP

Effective Date

08/12/2024

Background

Adding nine new sections to POMS to coincide with release of Compassionate Allowances (CAL) conditions. In addition, we are making updates to POMS sections DI 23022.080, DI 23022.560, and DI 23022.750 as needed based on the addition of new CAL conditions.

Summary of Changes

DI 23022.080 List of Compassionate Allowances (CAL) Conditions

Add new CAL conditions and update titles and location of current CAL conditions affected by the addition of the new CAL conditions.

DI 23022.082 Adult Heart Transplant Wait List – Status Levels 1-4

New CAL condition.

DI 23022.112 Bainbridge-Ropers Syndrome

New CAL condition.

DI 23022.274 Plasmablastic Lymphoma

New CAL condition.

DI 23022.374 Costello Syndrome

New CAL condition.

DI 23022.407 Histiocytic Malignancies

New CAL condition.

DI 23022.468 Neonatal Marfan Syndrome

New CAL condition.

DI 23022.503 Snijders Blok-Campeau Syndrome

New CAL condition.

DI 23022.560 Child Heart Transplant Wait List – Status Levels 1A/1B

Updated impairment summary to reflect addition of new CAL condition.

DI 23022.750 Histiocytosis Syndromes

Updated impairment summary to reflect addition of new CAL condition.

DI 23022.853 PACS1 Syndrome

New CAL condition.

DI 23022.879 Renal Medullary Carcinoma

New CAL condition.

DI 23022.080 List of Compassionate Allowances (CAL) Conditions

The following table is a complete list of CAL conditions:

Section Title	Section Number
1p36 Deletion Syndrome	DI 23022.081
Adult Heart Transplant Wait List – Status Levels 1-4	DI 23022.082
Acute Leukemia	DI 23022.085
Adrenal Cancer – with distant metastases or inoperable, unresectable or recurrent	DI 23022.090
Adult Non-Hodgkin Lymphoma	DI 23022.921
Adult Onset Huntington Disease	DI 23022.923
Aicardi-Goutieres Syndrome	DI 23022.665
Alexander Disease (ALX) – Child	DI 23022.095
Allan-Herndon-Dudley Syndrome	DI 23022.925
Alobar Holoprosencephaly	DI 23022.670
Alpers Disease	DI 23022.675
Alpha Mannosidosis – Types II and III	DI 23022.680
ALS/Parkinsonism Dementia Complex	DI 23022.660
Alstrom Syndrome	DI 23022.350
Alveolar Soft Part Sarcoma	DI 23022.927
Amegakaryocytic Thrombocytopenia	DI 23022.355
Amyotrophic Lateral Sclerosis (ALS) - Adult	DI 23022.100
Anaplastic Adrenal Cancer – Adult with distant metastases or inoperable, unresectable or recurrent	DI 23022.105
Anaplastic Ependymoma	DI 23022.536
Anaplastic Thyroid Cancer	DI 23022.340
Angelman Syndrome	DI 23022.600
Angioimmunoblastic T-Cell Lymphoma	DI 23022.357
Angiosarcoma	DI 23022.106
Aortic Atresia	DI 23022.540
Aplastic Anemia	DI 23022.929
Astrocytoma – Grade III and IV	DI 23022.110
Ataxia Telangiectasia	DI 23022.360
Atypical Teratoid/Rhabdoid Tumor	DI 23022.111
Bainbridge-Ropers Syndrome	DI 23022.112
Batten Disease	DI 23022.365
Beta Thalassemia Major	DI 23022.931
Bilateral Optic Atrophy – Infantile	DI 23022.933
Bilateral Retinoblastoma	DI 23022.370
Bladder Cancer – with distant metastases or inoperable or unresectable	DI 23022.115
Blastic Plasmacytoid Dendritic Cell Neoplasm	DI 23022.117
Breast Cancer – with distant metastases or recurrent	DI 23022.125
CACH – Vanishing White Matter Disease – Infantile and Childhood Onset Forms	DI 23022.127
Calciphylaxis	DI 23022.128
Canavan Disease (CD)	DI 23022.130
Carcinoma of Unknown Primary Site	DI 23022.685
Cardiac Amyloidosis – AL Type	DI 23022.580
Caudal Regression Syndrome – Types III and IV	DI 23022.935
CDKL5 Deficiency Disorder	DI 23022.133
Cerebro Oculo Facio Skeletal (COFS) Syndrome	DI 23022.135
Cerebrotendinous Xanthomatosis	DI 23022.690
Charlevoix-Saguenay Spastic Ataxia	DI 23022.144
Child Heart Transplant Wait List – Status Levels 1A/1B	DI 23022.560
Child Neuroblastoma – with distant metastasis or recurrent	DI 23022.695
Child Lymphoma	DI 23022.700
Child T-Cell Lymphoblastic Lymphoma	DI 23022.937
Cholangiocarcinoma	DI 23022.704
Chondrosarcoma – with multimodal therapy	DI 23022.705
Choroid Plexus Carcinoma	DI 23022.938
Chronic Idiopathic Intestinal Pseudo Obstruction	DI 23022.136
Chronic Myelogenous Leukemia (CML) -- Blast Phase	DI 23022.140
CIC-rearranged Sarcoma	DI 23022.543
Coffin-Lowry Syndrome	DI 23022.141
Congenital Lymphedema	DI 23022.939
Congenital Myotonic Dystrophy	DI 23022.143
Congenital Zika Syndrome	DI 23022.373
Cornelia de Lange Syndrome – Classic Form	DI 23022.710
Corticobasal Degeneration	DI 23022.605
Costello Syndrome	DI 23022.374
Creutzfeldt-Jakob Disease (CJD) – Adult	DI 23022.145
Cri du Chat Syndrome	DI 23022.375
Degos Disease – Systemic	DI 23022.380
DeSanctis Cacchione Syndrome	DI 23022.941
Desmoplastic Mesothelioma	DI 23022.382
Desmoplastic Small Round Cell Tumors	DI 23022.146
Dravet Syndrome	DI 23022.943
Duchenne Muscular Dystrophy – Adult	DI 23022.940
Early-Onset Alzheimer’s Disease	DI 23022.385
Edwards Syndrome (Trisomy 18)	DI 23022.390
Eisenmenger Syndrome	DI 23022.545
Endometrial Stromal Sarcoma	DI 23022.945
Endomyocardial Fibrosis	DI 23022.550
Ependymoblastoma (Child Brain Cancer)	DI 23022.150
Erdheim Chester Disease	DI 23022.947
Esophageal Cancer	DI 23022.155
Esthesioneuroblastoma	DI 23022.156
Ewing Sarcoma	DI 23022.715
Farber’s Disease (FD) – Infantile	DI 23022.160
Fatal Familial Insomnia	DI 23022.949
Fibrodysplasia Ossificans Progressiva	DI 23022.395
Fibrolamellar Cancer	DI 23022.163
Follicular Dendritic Cell Sarcoma – metastatic or recurrent	DI 23022.720
FOXG1 Syndrome	DI 23022.723
Friedreich's Ataxia (FRDA)	DI 23022.165
Frontotemporal Dementia (FTD), Pick's Disease, Type A – Adult	DI 23022.170
Fryns Syndrome	DI 23022.951
Fucosidosis – Type I	DI 23022.725
Fukuyama Congenital Muscular Dystrophy	DI 23022.400
Fulminant Giant Cell Myocarditis	DI 23022.953
Galactosialidosis – Early and Late Infantile Types	DI 23022.730
Gallbladder Cancer	DI 23022.175
Gaucher Disease (GD) – Type 2	DI 23022.180
Gerstmann-Straussler-Scheinker Disease	DI 23022.403
Giant Axonal Neuropathy	DI 23022.181
Glioblastoma Multiforme (Adult Brain Cancer)	DI 23022.185
Glioma Grade III and IV	DI 23022.735
Glutaric Acidemia – Type II	DI 23022.470
GM1 – Gangliodosis – Infantile & Juvenile Forms	DI 23022.186
Head and Neck Cancers – with distant metastasis or inoperable or unresectable	DI 23022.190
Heart Transplant Graft Failure	DI 23022.555
Hemophagocytic Lymphohistiocytosis – Familial Type (FHLH)	DI 23022.405
Hepatoblastoma	DI 23022.745
Hepatocellular Carcinoma	DI 23022.225
Hepatopulmonary Syndrome	DI 23022.955
Hepatorenal Syndrome	DI 23022.957
Histiocytic Malignancies	DI 23022.407
Histiocytosis Syndromes	DI 23022.750
Hoyeraal-Hreidarsson Syndrome	DI 23022.191
Hutchinson-Gilford Progeria Syndrome	DI 23022.755
Hydranencephaly	DI 23022.760
Hypocomplementemic Urticarial Vasculitis Syndrome	DI 23022.765
Hypophosphatasia – Perinatal (Lethal) and Infantile Onset Types	DI 23022.770
Hypoplastic Left Heart Syndrome	DI 23022.565
I Cell Disease	DI 23022.775
Idiopathic Pulmonary Fibrosis	DI 23022.420
Infantile Free Sialic Acid Storage Disease	DI 23022.780
Infantile Neuroaxonal Dystrophy (INAD)	DI 23022.195
Infantile Neuronal Ceroid Lipofuscinoses	DI 23022.425
Inflammatory Breast Cancer (IBC)	DI 23022.200
Intracranial Hemangiopericytoma	DI 23022.201
Jervell and Lange-Nielsen Syndrome	DI 23022.959
Joubert Syndrome	DI 23022.202
Junctional Epidermolysis Bullosa – Lethal Type	DI 23022.430
Juvenile Onset Huntington Disease	DI 23022.785
Kidney Cancer – inoperable or unresectable	DI 23022.205
Kleefstra Syndrome	DI 23022.207
Krabbe Disease (KD) – Infantile	DI 23022.210
Kufs Disease – Type A and B	DI 23022.790
Large Intestine Cancer – with distant metastasis or inoperable, unresectable or recurrent	DI 23022.215
Late Infantile Neuronal Ceroid Lipofuscinoses	DI 23022.435
Leber Congenital Amaurosis	DI 23022.437
Leigh’s Disease	DI 23022.440
Leiomyosarcoma	DI 23022.961
Leptomeningeal Carcinomatosis	DI 23022.216
Lesch-Nyhan Syndrome (LNS)	DI 23022.220
Lewy Body Dementia	DI 23022.610
Liposarcoma – metastatic or recurrent	DI 23022.221
Lissencephaly	DI 23022.795
Lowe Syndrome	DI 23022.615
Lymphomatoid Granulomatosis – Grade III	DI 23022.800
Malignant Brain Stem Gliomas – Childhood	DI 23022.805
Malignant Ectomesenchymoma	DI 23022.226
Malignant Gastrointestinal Stromal Tumor	DI 23022.963
Malignant Germ Cell Tumor	DI 23022.965
Malignant Multiple Sclerosis	DI 23022.620
Malignant Renal Rhabdoid Tumor	DI 23022.227
Mantle Cell Lymphoma (MCL)	DI 23022.230
Maple Syrup Urine Disease	DI 23022.445
Marshall-Smith Syndrome	DI 23022.231
Mastocytosis – Type IV	DI 23022.815
MECP 2 Duplication Syndrome	DI 23022.967
Medulloblastoma	DI 23022.820
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome	DI 23022.233
Megalencephaly-Capillary Malformation Syndrome	DI 23022.234
Menkes Disease – Classic or Infantile Onset Form	DI 23022.969
Merkel Cell Carcinoma – with metastases	DI 23022.825
Merosin Deficient Congenital Muscular Dystrophy	DI 23022.450
Metachromatic Leukodystrophy (MLD) – Late Infantile	DI 23022.235
Metastatic Endometrial Adenocarcinoma	DI 23022.827
Microvillus Inclusion Disease – Child	DI 23022.453
Mitral Valve Atresia	DI 23022.575
Mixed Dementias	DI 23022.455
Mowat-Wilson Syndrome	DI 23022.457
MPS I	DI 23022.415
MPS II	DI 23022.410
MPS III	DI 23022.495
Mucosal Malignant Melanoma	DI 23022.460
Multicentric Castleman Disease	DI 23022.625
Multiple System Atrophy	DI 23022.630
Myelodysplastic Syndrome with Excess Blasts	DI 23022.463
Myocolonic Epilepsy with Ragged Red Fibers Syndrome	DI 23022.830
Neonatal Adrenoleukodystrophy	DI 23022.465
Neonatal Marfan Syndrome	DI 23022.468
Nephrogenic Systemic Fibrosis	DI 23022.835
Neurodegeneration with Brain Iron Accumulation – Types 1 and 2	DI 23022.836
NFU-1 Mitochondrial Disease	DI 23022.971
Nicolaides-Baraitser Syndrome	DI 23022.236
Niemann-Pick Disease (NPD) – Type A	DI 23022.240
Niemann-Pick Disease – Type C	DI 23022.475
Nonketotic Hyperglycinemia	DI 23022.973
Non-Small Cell Lung Cancer	DI 23022.245
NUT Carcinoma	DI 23022.477
Obliterative Bronchiolitis	DI 23022.840
Ohtahara Syndrome	DI 23022.845
Oligodendroglioma Brain Cancer – Grade III	DI 23022.246
Ornithine Transcarbamylase (OTC) Deficiency	DI 23022.250
Orthochromatic Leukodystrophy with Pigmented Glia	DI 23022.850
Osteogenesis Imperfecta (OI) – Type II	DI 23022.255
Osteosarcoma, formerly known as Bone Cancer	DI 23022.120
Ovarian Cancer – with distant metastases or inoperable or unresectable	DI 23022.260
PACS1 Syndrome	DI 23022.853
Pallister-Killian Syndrome	DI 23022.261
Pancreatic Cancer	DI 23022.265
Paraneoplastic Cerebellar Degeneration	DI 23022.633
Paraneoplastic Pemphigus	DI 23022.635
Patau Syndrome (Trisomy 13)	DI 23022.480
Pearson Syndrome	DI 23022.855
Pelizaeus-Merzbacher Disease – Classic Form	DI 23022.860
Pelizaeus-Merzbacher Disease – Connatal Form	DI 23022.865
Pericardial Mesothelioma	DI 23022.266
Peripheral Nerve Cancer – metastatic or recurrent	DI 23022.870
Peritoneal Mesothelioma	DI 23022.270
Peritoneal Mucinous Carcinomatosis	DI 23022.975
Perry Syndrome	DI 23022.875
Pfeiffer Syndrome – Types II and III	DI 23022.481
Phelan-McDermid Syndrome	DI 23022.977
Pineoblastoma – Childhood	DI 23022.273
Pitt Hopkins Syndrome	DI 23022.877
Plasmablastic Lymphoma	DI 23022.274
Pleural Mesothelioma	DI 23022.275
Pompe Disease – Infantile	DI 23022.280
Pontocerebellar Hypoplasia	DI 23022.482
Posterior Cortical Atrophy	DI 23022.643
Primary Central Nervous System Lymphoma	DI 23022.640
Primary Effusion Lymphoma	DI 23022.645
Primary Omental Cancer	DI 23022.647
Primary Peritoneal Cancer	DI 23022.483
Primary Progressive Aphasia	DI 23022.485
Progressive Bulbar Palsy	DI 23022.281
Progressive Multifocal Leukoencephalopathy	DI 23022.490
Progressive Supranuclear Palsy	DI 23022.650
Prostate Cancer – Hormone Refractory Disease – or with visceral metastases	DI 23022.282
Pulmonary Atresia	DI 23022.585
Pulmonary Kaposi Sarcoma	DI 23022.655
Refractory Hodgkin Lymphoma	DI 23022.283
Renal Amyloidosis – AL Type	DI 23022.878
Renal Medullary Carcinoma	DI 23022.879
Renpenning Syndrome	DI 23022.284
Retinopathy of Prematurity - Stage V	DI 23022.979
Rett (RTT) Syndrome	DI 23022.285
Revesz Syndrome	DI 23022.286
Rhabdomyosarcoma	DI 23022.880
Rhizomelic Chondrodysplasia Punctata	DI 23022.885
Richter Syndrome	DI 23022.887
Roberts Syndrome	DI 23022.981
Rubinstein-Taybi Syndrome	DI 23022.287
Salivary Cancers	DI 23022.290
Sandhoff Disease	DI 23022.295
Sarcomatoid Carcinoma of the Lung – Stages II-IV	DI 23022.586
Sarcomatoid Mesothelioma	DI 23022.587
Schindler Disease – Type I	DI 23022.890
SCN8A-related Epilepsy with Encephalopathy	DI 23022.496
Seckel Syndrome	DI 23022.296
Secondary Adenocarcinoma of the Brain	DI 23022.298
Severe Combined Immunodeficiency – Childhood	DI 23022.983
Single Ventricle	DI 23022.590
Sinonasal Cancer	DI 23022.985
Sjogren-Larsson Syndrome	DI 23022.297
Skin Malignant Melanoma – with metastases	DI 23022.810
Small-Cell Cancer of the Female Genital Tract	DI 23022.315
Small-Cell Cancer of the Large Intestine	DI 23022.300
Small-Cell Cancer of the Ovary	DI 23022.305
Small-Cell Cancer of the Prostate	DI 23022.310
Small-Cell Cancer of the Thymus	DI 23022.311
Small-Cell Lung Cancer	DI 23022.320
Small Intestine Cancer – with distant metastases or inoperable, unresectable or recurrent	DI 23022.325
Smith Lemli Opitz Syndrome	DI 23022.895
Snijders Blok-Campeau Syndrome	DI 23022.503
Soft Tissue Sarcoma – with distant metastases or recurrent	DI 23022.326
Spinal Muscular Atrophy (SMA) – Types 0 and 1	DI 23022.330
Spinal Nerve Root Cancer – metastatic or recurrent	DI 23022.900
Spinocerebellar Ataxia	DI 23022.500
Stiff Person Syndrome	DI 23022.905
Stomach Cancer – with distant metastases or inoperable, unresectable or recurrent	DI 23022.335
Subacute Sclerosing Panencephalitis	DI 23022.505
Superficial Siderosis of the Central Nervous System	DI 23022.337
SYNGAP1-related NSID	DI 23022.238
Tabes Dorsalis	DI 23022.910
Tay Sachs Disease, Infantile Type	DI 23022.510
Taybi-Linder Syndrome	DI 23022.341
Tetrasomy 18p	DI 23022.343
Thanatophoric Dysplasia, Type 1	DI 23022.515
Transplant Coronary Artery Vasculopathy	DI 23022.987
Tricuspid Atresia	DI 23022.595
Trisomy 9	DI 23022.344
Ullrich Congenital Muscular Dystrophy	DI 23022.520
Ureter Cancer – with distant metastases or inoperable, unresectable or recurrent	DI 23022.345
Usher Syndrome – Type I	DI 23022.989
Ventricular Assist Device Recipient – Left, Right, or Biventricular	DI 23022.570
Walker Warburg Syndrome	DI 23022.525
Wolf-Hirschhorn Syndrome	DI 23022.915
Wolman Disease	DI 23022.530
Xeroderma Pigmentosum	DI 23022.920
X-Linked Lymphoproliferative Disease	DI 23022.346
X-Linked Myotubular Myopathy	DI 23022.347
Zellweger Syndrome	DI 23022.535

DI 23022.082 Adult Heart Transplant Wait List – Status Levels 1-4

COMPASSIONATE ALLOWANCES INFORMATION
ADULT HEART TRANSPLANT WAIT LIST - STATUS LEVELS 1-4
ALTERNATE NAMES	Adult Cardiac Transplant Wait List 1; Adult Cardiac Transplant Wait List 2; Adult Cardiac Transplant Wait List 3; Adult Cardiac Transplant Wait List 4; Adult Heart Transplant Wait List 1; Adult Heart Transplant Wait List 2; Adult Heart Transplant Wait List 3; Adult Heart Transplant Wait List 4
DESCRIPTION	A heart transplant is a life-saving surgical procedure to replace a diseased heart with a healthy heart from a deceased donor. Transplant is considered when an individual has “end-stage” heart failure. This means that the condition has become so severe that all treatments, other than heart transplant, have failed. Coronary artery disease is the most common cause of end-stage heart failure. Other causes are hypertensive cardiovascular disease, valvular heart disease, primary Myocardial Disease (PMD), and chemical agents like alcohol and certain medications. Individuals in need of a heart transplant go through a careful selection process at a heart transplant center. The United Network for Organ Sharing (UNOS) manages the heart transplant waiting list. To be assigned a status level on the waiting list, a heart transplant status justification form must be submitted. After the submission of this form, UNOS assigns a status that reflects the medical urgency for transplant. UNOS will not assign a status without the submission of a form. The status levels for individuals 18 years of age or older are: Status 1: The individual is critically ill and requires mechanical support from one of the following: • A non-dischargeable, surgically implanted, veno-arterial extracorporeal membrane oxygenation (VA ECMO); • A non-dischargeable, surgically implanted, non-endovascular biventricular assist device (BiVAD); or • A mechanical circulatory support device (MCSD) with severe ventricular arrhythmias (irregular heartbeats that originate in the lower heart chambers). These individuals have the highest priority on the transplant list. Status 2: The individual is on mechanical support and is dependent on at least one of the following: • A non-dischargeable, surgically implanted, non-endovascular left ventricular assist device (LVAD); • Total artificial heart (TAH), BiVAD, right ventricular assist device (RVAD), or ventricular assist device (VAD) for single patients; • A mechanical circulatory support device (MCSD) that is malfunctioning; • A percutaneous endovascular MCSD; • An intra-aortic balloon pump (IABP); or • The individual is experiencing recurrent or sustained ventricular tachycardia or ventricular fibrillation occurring despite medical intervention. Status 3: The individual has been admitted to the hospital and is receiving mechanical support from at least one of the following: • A dischargeable LVAD and is exercising 30 days of discretionary time; • Multiple inotropes or a single high dose inotrope and has hemodynamic monitoring; • MCSD with hemolysis; • MCSD with pump thrombosis • MCSD and right heart failure; • MCSD and has a device infection; • MCSD and has bleeding; • MCSD and has aortic insufficiency; • Veno-arterial extracorporeal membrane oxygenation (VA ECMO) after 7 days; • A non-dischargeable, surgically implanted, non-endovascular LVAD after 24 days; • A percutaneous endovascular circulatory support device after 14 days; • An IABP after 14 days; or • A MCSD and has life threatening ventricular arrhythmia after 7 days. Status 4: The individual has at least one of the following: • A dischargeable LVAD; • Is supported by inotropes without continuous hemodynamic monitoring; • A diagnosis of congenital heart disease; • A diagnosis of ischemic heart disease with intractable angina (chest pain despite treatment); • A diagnosis of amyloidosis, hypertrophic cardiomyopathy, or restrictive cardiomyopathy; or • Is a re-transplant (a second or subsequent transplantation) with International Society of Heart and Lung Transplantation (ISHLT) coronary allograft vasculopathy (CAV) grade 2-3, or New York Heart Association (NYHA) Class III-IV heart failure symptoms. Status 5: The individual needs a dual heart transplant (heart-lung, heart-liver, heart-kidney) and does not meet criteria for status levels 1 to 4. Status 6: Individuals classified as adult status level 6 do not meet the criteria for statuses 1-5 but are suitable for transplant. NOTE: Adult status levels 1-4 are the most severe and are considered CAL-level conditions. Although severe, status levels 5 and 6 are not considered CAL-level conditions.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: Testing to determine if an individual has end-stage heart disease may include: • Complete history and physical examination; • Blood tests; • Antibody tests; • Chest x-ray; • Twelve-lead electrocardiogram (ECG/EKG); • Stress tests (exercise ECG/EKG or myocardial perfusion scan); • Cardiopulmonary exercise test; • Transthoracic/transesophageal echocardiogram (TTE); • Cardiac catheterization; • Cardiac magnetic resonance imaging (MRI); • Lung function tests; and • Computed tomography (CT) scan. Signs and symptoms: Some signs and symptoms an individual on the heart transplant waiting list may experience are: • Breathlessness on minimal exertion or at rest; • Chronic cough or wheezing; • Fatigue and weakness; • Edema (swelling caused by too much fluid trapped in the body's tissues); • Very rapid weight gain from fluid buildup; • Nausea or lack of appetite; • Tachycardia (high heart rate); • Cognitive impairment (problems with memory, speech, or language); • Difficulty concentrating or decreased alertness; • Depression and anxiety; and • Chest pain if heart failure is caused by a heart attack. ICD-9: V42; V49.83; 428.0 ICD-10: I50; Z76.82; Z94.1
PROGRESSION	Time spent on the heart transplant waiting list is a key factor in determining who receives a donor heart. The wait for a heart transplant could be days to months. Some individuals may wait years. The amount of time an individual waits for a heart transplant depends on several factors including urgency of need, antibody levels, blood type, body size, and the number of donors in the area the individual lives in. An individual can be taken off the waiting list due to a serious medical event such as a stroke, cancer, uncontrollable diabetes, infection, or kidney failure. Donor hearts are in short supply. Some individuals die while waiting for a suitable donor heart.
TREATMENT	Individuals on the waiting list for a donor heart receive ongoing treatment for heart failure. Depending on the severity of their condition, they may receive mechanical assist devices to control the irregular heartbeat or help the heart pump blood before the actual heart transplant surgery.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Clinical history and examination that describes the diagnostic features of the impairment; • Operative and procedure reports; • Cardiology consultation reports; • Imaging studies (ECG/EKG, chest x-ray, MRI) showing heart failure; and • TTE showing indications of the need for mechanical assist devices such as ICDs or VADs.
Suggested Listings for Evaluation:
DETERMINATION	LISTING	REMARKS
Meets	4.02 4.04 4.05 4.06
Equals	4.02 4.04 4.05 4.06
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.112 Bainbridge-Ropers Syndrome

COMPASSIONATE ALLOWANCES INFORMATION
BAINBRIDGE-ROPERS SYNDROME
ALTERNATE NAMES	ASXL3/Bainbridge-Ropers Syndrome; ASXL3 Syndrome BRPS; ASXL3 Syndrome; ASXL3-Related Disorder; Severe Feeding Difficulties Failure to Thrive Microcephaly Due to ASXL3 Deficiency Syndrome
DESCRIPTION	Bainbridge-Ropers syndrome (BRPS) is a neurodevelopmental disorder caused by mutations in the ASXL3 gene. It is characterized by delayed psychomotor development, intellectual disability, absent or poor speech, hypotonia, poor growth, seizures, and dysmorphic facial features. Affected individuals may also display autistic features. Some individuals may have issues with feeding and cyclic vomiting during infancy. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include strabismus, sleep disturbance, and palate and dental anomalies.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: The diagnosis of BRPS is made by: • Symptoms; • Clinical examination; • Chromosomal microarray analysis; and • Genetic testing for mutation of the ASXL3 gene. Physical findings:The frequently occurring physical signs and symptoms of BRPS include: • Feeding difficulties in infancy; • Global developmental delays; • Infantile muscular hypotonia (decreased muscle tone); • Intellectual disability, which may be severe or profound; • Neurological speech impairment; • Abnormality of the skeletal system; • Absent speech; • Autistic behavior; • High, narrow palate; • Loose joints and wrists that bend inward; • Microcephaly (abnormally small head); and • Strabismus (misalignment of the eyes). ICD-9: 755.55; 758.9 ICD-10: Q87.0
PROGRESSION	Symptoms of BRPS may start to appear during pregnancy, at birth, and as an infant. Most affected individuals display normal birth weight for gestational age but often experience poor postnatal growth because of feeding issues during infancy. They may display poor suck and swallow, recurrent vomiting, and GERD (gastroesophageal reflux disease). Most individuals with ASXL3 -related disorder, especially in the younger age groups, come to medical attention because of poor postnatal growth and ongoing feeding difficulties. Growth and height typically stabilize or normalize after appropriate treatment of feeding issues. Hypotonia is a common feature in individuals with ASXL3-related disorder, especially during the neonatal period and in early infancy. Later in life, some children develop an unusual posture and contractures with elbow, wrist, and fingers held in the flexion position. This is likely because of spasticity that becomes apparent with age. Seizures occur in about one third of affected individuals and can range from generalized tonic-clonic seizures to absence seizures. Seizures typically respond to standard anti-seizure medications. Most individuals with ASXL3-related disorder have normal brain imaging and do not have any characteristic brain findings.
TREATMENT	There is no curative treatment for this syndrome. Complications are typically managed through a multidisciplinary team of medical specialists and therapists (speech therapy, physical therapy, occupational therapy, etc.). Treatment is symptom specific and supportive and may include feeding therapy; gastrostomy tube placement for those with persistent feeding issues; anti-reflux medication or fundoplication for those with gastroesophageal disease; standard treatment for epilepsy, joint contractures, sleep apnea, dental anomalies, strabismus or refractive error, and developmental delay/intellectual disability.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Clinical history and examination that describes diagnostic features of the impairment; and • Genetic sequencing tests confirming mutation of the ASXL3 gene.
Suggested Listings for Evaluation:
DETERMINATION	LISTING	REMARKS
Meets	100.05 105.10 110.08 B 111.02 111.09 112.05 112.10 112.11 112.14
Equals
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.274 Plasmablastic Lymphoma

COMPASSIONATE ALLOWANCES INFORMATION
PLASMABLASTIC LYMPHOMA
ALTERNATE NAMES	PBL; Plasmatic Lymphoma
DESCRIPTION	Plasmablastic lymphoma (PBL) is an uncommon but aggressive subtype of diffuse large B-cell lymphoma. PBL typically presents as a mass in one or more extra‐nodal sites, usually the oral cavity or gastro‐intestinal tract. The primary organs involved are usually the gastrointestinal system, lymph nodes, oral mucosa and sometimes the skin. Nodal disease without extra‐nodal involvement is rare. These sites include the genitourinary tract, central nervous system, bone, liver, nasal cavities, lung, and orbits. PBL can occur in people of all ages, and typically occurs in immunosuppressed adults, particularly those with HIV infection or receiving immunosuppressive therapy. PBL is rare in children. The exact underlying cause of PBL is not known.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: The diagnosis of PBL is difficult because its features overlap with myeloma and lymphoma. The diagnosis of PBL is made by: • Physical examination and history; • Blood chemistry studies; • Bone marrow aspiration and biopsy; • Computerized tomography (CAT) scan; • Complete blood count (CBC); • Cytogenetic analysis; • Flow cytometry; • Immunohistochemistry; • Immunophenotyping; • Lymph node biopsy; • Magnetic resonance imaging (MRI); and • Positron emission tomography (PET) scan. Physical findings: The physical findings of PBL include: • Disseminated bone involvement; • Drenching night sweats; • Fatigue; • Fever (for no known reason); • Pain in the chest, abdomen, or bones (for no known reason); • Painless swelling in the lymph nodes; • Skin rash or itchy skin; and • Weight loss (for no known reason). ICD-9: 200.8 ICD-10: C83.3
PROGRESSION	PBL is a rare disease, with male predominance. It is a most common lymphoma in HIV patients and immunosuppressed adults. This disease mostly occurs in adults and is rare in children. The median age at diagnosis is 50 years of age. PBL is fast-growing and may become resistant to treatment. It has a very aggressive disease course comprising relapses and refractoriness to chemotherapy. The prognosis is usually poor for individuals with PBL. Medial survival is 7 to 12 months with 2-year survival about 40 percent, and 3-year survival 10 to 25 percent.
TREATMENT	PBL is a very aggressive lymphoma that is difficult to diagnose and treat. It requires an interprofessional team with a medical oncologist, infectious disease physician, pharmacist, and oncology nurse for treatment in the form of high dose lymphoma chemotherapy. Palliative care is considered early during treatment to help individuals with PBL to transition their care, if needed, to the hospice setting due to a very poor prognosis associated with this lymphoma.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Clinical history and examination that describes the diagnostic features of the impairment; and • The diagnosis of PBL is usually based on the pathology report from a lymph node or bone marrow specimen.
Suggested Listings for Evaluation:
DETERMINATION	LISTINGS	REMARKS
Meets	13.05 A 1 113.05 A
Equals	13.05 D 113.05 D
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.374 Costello Syndrome

COMPASSIONATE ALLOWANCES INFORMATION
COSTELLO SYNDROME
ALTERNATE NAMES	Congenital Myopathy with Excess of Muscle Spindles; Faciocutaneoskeletal Syndrome; FCS Syndrome
DESCRIPTION	Costello syndrome is a rare condition that affects many different parts of the body. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: Costello syndrome diagnosis occurs in early childhood. The diagnosis of Costello syndrome is made by: • Physical examination; • Genetic testing; and • Family medical history. Physical findings: Symptoms of Costello syndrome include: • Feeding difficulties during infancy that sometimes require a feeding tube; • Heart problems (arrhythmia, hypertrophic cardiomyopathy); • Curve of the spine (scoliosis or kyphosis); • Intellectual disability (mild to moderate) and growth abnormalities of the brain (Chiari malformation); • Vision and dental problems; • Structural kidney differences; and • Weak muscle tone (hypotonia). ICD-9: ICD-10:Q87.8, Q87.89
PROGRESSION	Costello syndrome is a lifelong condition without a cure. The prognosis varies by the specific missense mutations, with neonatal lethal phenotypes and attenuated phenotypes reported. The disorder progresses with age and children often show signs of premature aging, osteoporosis, and osteopenia. An increased risk of about 10 to 15 percent for solid malignant tumors (embryonal rhabdomyosarcoma, neuroblastoma) in early childhood and transitional cell carcinoma of the bladder in adolescence is reported.
TREATMENT	Treatment for Costello syndrome addresses symptoms of the condition since there’s no cure. Treatment is directed toward the specific symptoms that are apparent in each child. Pediatricians, cardiologists, orthopedists, orthopedic surgeons, dermatologists, speech pathologists, dietitians, and other health care professionals may need to plan an affected child’s treatment systematically and comprehensively.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Physical examination; • Family medical history; and • Genetic testing to determine the gene change responsible.
Suggested Listings for Evaluation:
DETERMINATION	LISTINGS	REMARKS
Meets	100.05 101.18 101.24 104.05 105.08 105.10 111.02 111.08 111.09 112.05 112.14 113.03 113.21	Listing level severity must be documented.
Equals
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.407 Histiocytic Malignancies

COMPASSIONATE ALLOWANCES INFORMATION
HISTIOCYTIC MALIGNANCIES
ALTERNATE NAMES	FDCS; Follicular Dendritic Cell Sarcoma; Histiocytic Sarcoma; HS; Interdigitating Dendritic Cell Sarcoma; IDCS; Langerhans Cell Sarcoma; LCS
DESCRIPTION	Histiocytic malignanices are very rare cancers that arise from histiocytes, dendritic cells, and Langerhans cells. These tumors are highly malignant and rapidly progressive. Because the cancers are so rare, their therapy is not standardized, and tends to be only minimally to moderately effective. The tumors most commonly present with lesions in soft tissue and skin but rapidly advance to involve lymph nodes and organ tissues. These cancers present in middle-aged and older adults and are very rarely seen in children. Types of histiocytic malignancies include: • Langerhans cell sarcomas (LCS); • Interdigitating dendritic cell sarcomas (IDCS); • Histiocytic sarcomas (HS) (the most common form of histiocytic malignancy); and • Follicular dendritic cell sarcoma (FDCS). LCS is an extremely aggressive high-grade tumor that can occur without a known cause. It can also progress from Langerhans Cell Histiocytosis. These tumors usually involve the skin and underlying soft tissue. Although rare, it may also involve the lungs, liver, spleen, and bone. LCS can occur at any age but is most commonly diagnosed in adults over 45 years of age. IDCS arises from antigen presenting cells. It mostly affects the lymph nodes. Although rare, it can also occur in skin and soft tissue. IDCS can occur at any age but is most commonly diagnosed in adult males over 60 years of age. HS is an aggressive cancer with an unknown cause. Tumors commonly occur in the intestinal tract, skin, and soft tissue. HS can occur at any age but are most common in adults over 45 years old. FDCS is cancer with painless, slow-growing tumors that most commonly occur in the lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. FDCS can occur at any age and is most common in adults aged 50 years and older.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: Evidence of a rapidly progressing tumor is mandatory for a diagnosis of histiocytic malignancies. Diagnosis can be very difficult because the conditions can mimic other disorders. The diagnostic work-up for these disorders may include: • Tumor biopsy and detailed pathological evaluation, which could include immunophenotyping and genetic/DNA analysis as well as microscopic histology; and • Imaging such as computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET) scans, used to determine extent of disease and help with diagnosis. Physical findings: The symptoms and signs of histiocytic malignancies depend on the type and specific organ involvement. Symptoms and signs of histiocytic malignancies may include: • Tumor masses in the skin, soft tissues, and lymph nodes; • Fever; • Sweats; • Weight loss; and • Anorexia (lack or loss of appetite). ICD-9: 202.3; 202.9 ICD-10: C96A; C96.4
PROGRESSION	Histiocytic malignancies are associated with a very poor prognosis. Survival is generally measured as months to 1-2 years. Patients with early stage localized disease can have better survival with aggressive therapy.
TREATMENT	Local sarcoma can be treated with surgery and radiation, with the literature reporting potentially good results. Aggressive chemotherapy, using lymphoma regimens, can improve survival but relapse and death within 1-2 years is still common.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Biopsy results; • Imaging results from CT, MRI, PET scans; and • Clinical history, physical exam, and treatments given.
Suggested Listings for Evaluation:
DETERMINATION	LISTINGS	REMARKS
Meets	13.04 A or B	Histiocytic malignancies meet 13.04 if the cancer fulfills the A or B of the sarcoma listing criteria.
Equals	13.05 A 1 13.11	Histiocytic malignancies with severe multi-system, multi-focal spread that is being treated with chemotherapy may equal the criteria for listing 13.05 A 1. Histiocytic malignancies with bone involvement may equal the criteria of listing 13.11.
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.468 Neonatal Marfan Syndrome

COMPASSIONATE ALLOWANCES INFORMATION
NEONATAL MARFAN SYNDROME
ALTERNATE NAMES	Early Onset Marfan Syndrome; Infantile Marfan Syndrome; Neonatal MFS; NMFS
DESCRIPTION	Marfan syndrome is a genetic disorder that changes the proteins that help make healthy connective tissue. This leads to problems with the development of connective tissue, which supports the bones, cartilage, tendons, muscles, and organs such as the heart, lungs, and skin. Marfan syndrome is caused by mutations in the FBN1 gene. Neonatal Marfan syndrome (NMFS) is a rare, severe, and life-threatening form of Marfan syndrome. It is evident in early infancy and shows rapid progression during early childhood. NMFS has more severe clinical features and a poorer prognosis than MFS.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: NMFS diagnosis occurs during infancy and early childhood. The diagnosis of NMFS is made by: • Physical examination; • Family history; • Eye examination; • Genetic testing; • Transesophageal echocardiogram (TEE); • Electrocardiogram (EKG); • Echocardiogram; • Magnetic resonance imaging (MRI); • Computed tomography (CT) scan; and • Chest x-ray. Physical findings: Symptoms of NMFS include: • Pulmonary disease (such as emphysema or spontaneous pneumothorax); • Abnormal facial appearance; • Eye problems such as nearsightedness; • Crowding of teeth; • Tall, thin body; • Abnormally shaped chest; • Long arms, legs, and fingers; • Laxity of joints; • Curved spine; • Flat feet; • Poor healing of wounds or scars on the skin; • Dilation of the aortic root (the initial part of the aorta as it arises from the left ventricle); • Tricuspid valve regurgitation; and • Mitral valve regurgitation. ICD-9: 759.82 ICD-10: Q87.40
PROGRESSION	Children diagnosed with NMFS have a high mortality rate in first two years of life. However, every child with NMFS is different, and the prognosis depends on each individual’s combination of features and the severity of each component.
TREATMENT	There is no cure for NMFS. Doctors use treatments to relieve symptoms and prevent additional problems or complications. Treatment depends on the area of the body affected by the syndrome and may include may include opthalmologists (eyes), orthopedists (bones and joints), and cardiothoracic surgeons (heart, lungs, and other organs and tissues in the chest).
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Physical examination; • Family history; • Eye examination; • Genetic testing; • TEE; • EKG; • Echocardiogram; and • Imaging studies such as MRI, CT scan, and chest x-ray.
Suggested Listings for Evaluation:
DETERMINATION	LISTINGS	REMARKS
Meets	104.02 104.06
Equals
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.503 Snijders Blok-Campeau Syndrome

COMPASSIONATE ALLOWANCES INFORMATION
SNIJDERS BLOK-CAMPEAU SYNDROME
ALTERNATE NAMES	CDHD3 Related Syndrome; IDDMSF; Intellectual Developmental Disorder with Macrocephaly, Speech Delay, and Dysmorphic Facies; SNIBCP
DESCRIPTION	Snijders Blok-Campeau syndrome (SNIBCPS) is a genetic disorder characterized by global developmental delay, impaired intellectual development, delayed speech acquisition, hypotonia, behavioral disorders including autism spectrum disorder (ASD), and distinctive facial features. This syndrome is caused by mutations in the CHD3 gene. Affected individuals tend to have expressive language deficits. While some individuals with SNIBCPS develop limited language, others acquire only a few words or never speak. If speech occurs, it usually develops after age 2. Most individuals with SNIBCPS have vision problems, including farsightedness or eyes that do not look in the same direction. About half of individuals with SNIBCPS have brain abnormalities, such as enlarged spaces in the brain where cerebrospinal fluid (CSF) accumulates. Less commonly, affected individuals are born with a hole between the two upper chambers of the heart (atrial septal defect) or another problem with the heart's structure or function (congenital heart disease).
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: The diagnosis of SNIBCPS is based on: • Symptoms; • Clinical examinations; and • Genetic testing for mutation of the CHD3 gene. Physical findings: The physical signs and symptoms of SNIBCPS include: • Developmental delay; • Dysarthria (difficulty speaking); • Speech apraxia (difficulty producing the sequences of sounds and syllables needed to form words); • Oromotor dysfunction (problems coordinating movements of the mouth and tongue); • Stuttering; • Macrocephaly (an overly large head); • Prominent forehead; • Hypertelorism (an increased distance between two body parts); • Hypotonia (decreased muscle tone); • Joint laxity (flexible joints that have a wide range of motion); • Farsightedness (hyperopia); • Strabismus (misalignment of the eyes); • Seizures; and • Autistic behaviors that affect communication and social interaction. ICD-9: 755.5; 758.9 ICD-10: Q87.0
PROGRESSION	The physical features of SNIBCPS may be present at birth or may develop in the first few years of life. Developmental delays are present in childhood with variable signs and symptoms. For school age children and adolescents, speech disorders often present with the child’s academic performance.
TREATMENT	There is no curative treatment for this syndrome. Treatment is symptom specific and supportive. Treatment includes the management of any complications through a multidisciplinary team of medical specialists, neurologists, developmental pediatricians, and therapists (speech therapy, physical therapy, occupational therapy, etc.). Interventions may include intensive therapy, surgeries, and medication (i.e., seizure control) as warranted. School age individuals may benefit from individualized education plans (IEPs) and age-appropriate early childhood intervention programs or special education.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Clinical history and physical examination that describes the diagnostic features of the impairment; and • Genetic sequencing tests confirming mutation of the CHD3 gene.
Suggested Listings for Evaluation:
DETERMINATION	LISTINGS	REMARKS
Meets	110.08 B
Equals
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.560 Child Heart Transplant Wait List - Status Levels 1A/1B

COMPASSIONATE ALLOWANCES INFORMATION
CHILD HEART TRANSPLANT WAIT LIST - STATUS LEVELS 1A/1B
ALTERNATE NAMES	Childhood Heart Transplant Wait List 1A; Childhood Heart Transplant Wait List 1B; Pediatric Cardiac Transplant Wait List 1A; Pediatric Cardiac Transplant Wait List 1B; Pediatric Heart Transplant Wait List 1A; Pediatric Heart Transplant Wait List 1B
DESCRIPTION	A heart transplant is a life-saving surgical procedure to replace a diseased heart with a healthy heart from a deceased donor. Transplant is considered when a child has “end-stage” heart failure due to congenital heart defect or acquired heart disease. This means that the condition has become so severe that all treatments, other than heart transplant, have failed. Congenital heart defects such as hypoplastic left heart syndrome (HLHS) are the most common causes of end-stage heart failure in children. Acquired heart disease leading to heart transplant in children are less common and includes chronic lung disease, viral infection, and adverse side effect from medications. Children in need of a heart transplant go through a careful selection process at a heart transplant center. The United Network for Organ Sharing (UNOS) manages the heart transplant waiting list. To be assigned a status level on the waiting list, a heart transplant status justification form must be submitted. After the submission of this form, UNOS assigns a status that reflects the medical urgency for transplant. UNOS will not assign a status without submission of the form. The status levels for children 17 years old or younger are: Status 1A: The child must be admitted to the hospital that registered the child for the waiting list and the child must meet at least one of the following criteria: • Requires continuous mechanical ventilation; • Requires assistance of an intra-aortic balloon pump (IABP); • Has ductal dependent pulmonary or systemic circulation, with ductal patency maintained by stent or prostaglandin infusion; • Has a hemodynamically significant congenital heart disease diagnosis, requires infusion of multiple intravenous inotropes or a high dose of a single intravenous inotrope. The Organ Procurement and Transplantation Network (OPTN) maintains a list of approved congenital heart disease diagnoses and qualifying inotropes and doses that qualify a candidate for pediatric status 1A; or • Requires assistance of a mechanical circulatory support device. These children have the highest priority on the transplant list. Status 1B: There is no hospital admission requirement. The child must meet one of the following: • Requires infusion of one or more inotropic agents but does not qualify for pediatric status level 1A. The OPTN maintains a list of the approved status level 1B inotropic agents and doses; or • Is less than one year old at the time of the candidate’s initial registration and has a diagnosis of hypertrophic or restrictive cardiomyopathy. Status 2: Children classified as pediatric status level 2 do not meet the criteria for pediatric status levels 1A or 1B but are suitable transplant. NOTE: Pediatric status levels 1A and 1B are the most severe status levels for children and are considered CAL level conditions. Although severe status level 2 is not considered a CAL level condition.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: Testing to determine if a child has end-stage heart disease may include: • Complete history and physical examination; • Blood tests; • Viral studies; • Urine tests; • Chest x-ray; • Echocardiogram (echo); • Electrocardiogram (ECG/EKG); • Cardiac catheterization; and • Cardiac magnetic resonance imaging (MRI). Signs and Symptoms: Some signs and symptoms a child with end-stage heart disease may experience are: • Cyanosis (bluish color in the skin, lips, and nail beds); • Tachypnea (abnormally rapid breathing); • Dysrhythmias (abnormal or irregular heartbeat); • Poor perfusion (inadequate circulation of blood through organs and tissues); • Feeding intolerance; • Chronic cough or wheezing; • Fatigue, weakness, faintness; • Need to urinate at night; • Palpitations (fast or irregular pulse or a sensation of feeling the heartbeat); • Swollen liver or abdomen; • Weight gain; • Edema (swelling caused by too much fluid trapped in the body's tissues); • Nausea or lack of appetite; and • Tachycardia (a high heart rate). ICD-9: V42.1; V49.83; 428.0 ICD-10: I50; Z76.82; Z94.1
TREATMENT	Children on the waiting list for a donor heart receive ongoing treatment for heart failure. Depending on the severity of their condition, they may receive a mechanical assist device to help the heart pump blood before the actual heart transplant surgery.
PROGRESSION	Time spent on the heart transplant waiting list is a key factor in determining who receives a donor heart. The wait for a heart transplant could be days to months. Some children may wait years. The amount of time a child waits for a heart transplant depends on several factors including urgency of need, antibody levels, blood type, body size, and the number of donors in the area the child lives in. A child can be taken off the waiting list due to a serious medical event such as a stroke, infection, or kidney failure. Donor hearts are in short supply. Some children die while waiting for a suitable donor heart.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Clinical history and examination that describes the diagnostic features of the impairment; • Operative and procedure reports; • Cardiology consultation reports; • Imaging studies (ECG/EKG, chest x-ray, MRI) showing heart failure; and • Echocardiogram showing indications of the need for mechanical assist devices such as VADs.
Suggested Listings for Evaluation:
DETERMINATION	LISTING	REMARKS
Meets	104.02 104.05 104.06
Equals	104.02 104.05 104.06
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.750 Histiocytosis Syndromes

COMPASSIONATE ALLOWANCES INFORMATION
HISTIOCYTOSIS SYNDROMES
ALTERNATE NAMES	Eosinophilic Granuloma; Hand-Schuller-Christian Disease; Histiocytosis X; Langerhans Cell Histiocytosis; LCH; Letterer-Siwe Disease; Pulmonary Histiocytosis X; Pulmonary Langerhans Cell Histiocytosis; PLCH; Rosai-Dorfman-Destombes Disease; Rosai-Dorfman Disease; Sinus Histiocytosis with Massive Lymphadenopathy
DESCRIPTION	Histiocytosis syndromes is a general name for a group of rare disorders that occur when histiocytes proliferate and form masses or granulomas with associated destruction of surrounding tissue. A histiocyte is an immune system cell belonging to the mononuclear phagocyte system and normally found throughout the body, especially in skin, lymph nodes, lungs, bone marrow, and the spleen. When histiocytes build up they can cause damage or tumors to form in one or more parts of the body. Some types of histiocytosis syndromes include: • Langerhans cell histiocytosis (LCH) also known as Hand-Schuller-Christian disease, Letterer-Siwe disease, eosinophilic granuloma, Histiocytosis X, and Pulmonary Histiocytosis X; and • Rosai-Dorfman disease (RDD) also known as sinus histiocytosis with massive lymphadenopathy and Rosai-Dorfman-Destombes disease. These conditions can affect both adults and children.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-COM CODING	Diagnostic testing: Histiocytosis syndromes are varied. Some can mimic other disorders. This makes diagnosis difficult. Diagnostic testing for histiocytosis syndromes may include: • Imaging including x-rays, positron emission tomography (PET) scan, computed tomography (CT), magnetic resonance imaging (MRI), and bone scan; • Blood tests including complete blood count (CBC) and comprehensive blood panel; • Pulmonary function test (PFT); • Bronchoscopy; • Endoscopy; • Liver function tests; • Genetic testing such as fluorescence in situ hybridization (FISH) testing; or • Biopsy of skin or bone marrow. Physical findings: Symptoms and signs histiocytosis syndromes depend on the type and the area of the body that is affected. In children, these may include: • Abdominal pain; • Scaly or waxy rash; • Bone pain; • Delayed puberty; • Growth failure due to pituitary involvement; • Irritability; • Failure to thrive; • Mental deterioration; • Seizures; • Headache; • Frequent urination due to diabetes insipidus; • Liver problems, which can include jaundice (yellowing of the skin or whites of the eyes), fluid in the belly, diarrhea, or vomiting; • Weight loss; • Swollen lymph nodes; and • Night sweats. Children over age 5 usually only have bone involvement. Adults may experience: • Bone pain; • Cough and shortness of breath; • Fever; • Frequent urination; • Weight loss; and • Rash. ICD-9: 202.5, 277.89 ICD-10: J84.82
PROGRESSION	Histiocytosis syndromes are highly variable in severity. Disease with few lesions involving skin, bone, or lymph nodes is generally considered “low risk” for developing severe symptoms. On the other hand, “high risk” disease has multiple systemic lesions which may involve the lungs, liver, or bone marrow and may be difficult to treat. Long-term side effects such as diabetes insipidus, stunted growth, loss of teeth, bone defects, hearing loss, or neurologic problems may develop. Infants and young children are more likely to have systemic disease that leads to death.
TREATMENT	For mild cases of a histiocytic disease, observation is often the choice as the disease will frequently spontaneously resolve. For local isolated lesions in more severe cases, surgery and radiation can be considered. Other treatments may include psoralen and ultraviolet A (PUVA), immunotherapy, and stem cell transplant. Recent DNA findings in LCH and RDD have led to the conclusion that these diseases are neoplastic (abnormal growth of tissues that may or may not be cancerous) and treatment of severe and systemic presentations now frequently utilize chemotherapy. The very severe cases of these diseases can occasionally lead to death, even with modern treatment.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Clinical history and physical examination that describes the diagnostic features of the impairment; • Biopsy of the affected organ system; and • Functional assessment of the organ system involved (for example, PFTs).
Suggested Listings for Evaluation:
DETERMINATION	LISTING	REMARKS
Meets	3.02 8.09 103.02 108.09	Listing level severity must be documented.
Equals
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.853 PACS1 Syndrome

COMPASSIONATE ALLOWANCES INFORMATION
PACS1 SYNDROME
ALTERNATE NAMES	Autosomal Dominant Intellectual Disability-17; Intellectual Disability-Craniofacial Dysmorphism Cryptorchidism Syndrome; PACS1 Neurodevelopmental Disorder; PACS1-NDD; PACS1 Related Syndrome; Schuurs-Hoeijmakers Syndrome; SHMS
DESCRIPTION	PACS1 syndromeis a rare neuro-genetic disorder caused by mutations in the PACS1 gene. It is characterized by mild-to-severe neurodevelopmental delays. Language skills are affected more severely than motor skills. Hypotonia (decreased muscle tone) is reported in about a third of individuals and is noted to improve over time. Approximately 60 percent of individuals are ambulatory. Feeding difficulty is common, with 25 percent requiring gastrostomy tube to maintain appropriate caloric intake. Other common features include constipation, seizures, behavioral issues, congenital heart anomalies, short stature, and microcephaly. Many affected individuals have additional neurological, behavioral, and health problems. PACS1 syndrome mostly occurs in children, and rarely occurs in adults. The prevalence of PACS1 syndrome is unknown; more than 30 affected individuals have been described in the scientific literature.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: The diagnosis of PACS1 syndrome is based on: • Symptoms; • Clinical examination; and • Genetic testing for mutation of the PACS1 gene. Physical findings: The physical signs and symptoms of PACS1 syndrome include: • Distinctive facial appearance; • Thick and highly arched eyebrows; • Long eyelashes; • Widely set eyes (hypertelorism); • Outside corners of the eyes that point downward (down slanting palpebral fissures); • Droopy eyelids (ptosis); • Rounded nasal tip; • Wide mouth with corners that point downward; • Thin upper lip; • Smooth area between the nose and upper lip (philtrum); • Widely spaced teeth; • Ears that are low-set with fewer folds and grooves than normal; • Malformations of the heart, brain, eyes, or other organs; and • Males may have undescended testes (cryptorchidism). ICD-9: 755.5; 758.9 ICD-10: Q87.0
PROGRESSION	Symptoms may begin as a newborn, infant, in a single age range, or during several age ranges. In PACS1 syndrome, intellectual disability typically ranges from mild to moderate. Individuals with this condition also have problems with producing speech (expressive language). Speech development ranges from limited language to few words or no speech. Children with PACS1 syndrome often have problems learning to eat solid food and prefer soft foods. When given solid foods, affected children often swallow without chewing. These food issues tend to persist throughout life. Some affected individuals experience a backflow of stomach acids into the esophagus (gastroesophageal reflux). Additional neurological problems can occur in PACS1 syndrome. Some affected individuals have features of autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), self-injury, or frustration leading to tantrums can also occur. Most individuals with PACS1 syndrome have seizures that vary in type and age of onset. Some individuals with PACS1 syndrome have weak muscle tone (hypotonia). Individuals with this condition are often delayed in walking, with some developing an unsteady walking style (gait). Rarely, affected individuals have frequent falls and gradually lose their ability to walk in late childhood, requiring wheelchair assistance.
TREATMENT	There is no curative treatment for this syndrome. Treatment is symptom specific and supportive. Treatment by a multidisciplinary team is needed to address feeding issues, constipation, seizures, behavioral issues, cardiac anomalies, vision issues, and renal anomalies. Medication to prevent seizures and placement of a feeding tube to help with weight gain may be warranted.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Clinical history and physical examination that describes the diagnostic features of the impairment; and • Genetic sequencing tests confirming mutation of the PACS1 gene.
Suggested Listings for Evaluation:
DETERMINATION	LISTINGS	REMARKS
Meets	110.08 A or B 111.02 111.17 112.02 112.05 112.06 112.10 112.11	Evaluate the most severe forms of PACS1 Syndrome under 110.08 A or B. For less severe, late onset forms, evaluate under the affected body systems.
Equals
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.879 Renal Medullary Carcinoma

COMPASSIONATE ALLOWANCES INFORMATION
RENAL MEDULLARY CARCINOMA
ALTERNATE NAMES	Kidney Medullary Carcinoma; Medullary Carcinoma of the Kidney; Medullary Renal Cell Carcinoma; RCCU-MP; Renal Cell Carcinoma, Unclassified, with Medullary Phenotype; RMC
DESCRIPTION	Renal medullary carcinoma (RMC) is a rare but aggressive type of kidney cancer. It’s a very rare subclass of renal cancer that is largely restricted to patients who carry the sickle cell trait, sickle cell disease, or other sickle hemoglobinopathies that can cause sickling of the red blood cells. Generally, about 80 percent of cases have metastatic disease present at diagnosis. Patients without initial metastatic disease almost universally develop metastatic spread. RMC cells lack a protein called INI1 or SMARCB1. This protein is a tumor suppressor and normally helps prevent cells from becoming cancerous. RMC develops in the innermost part of the kidney (medulla). Its main function is to maintain the blood’s water and salt balance.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING	Diagnostic testing: Diagnostic testing for RMC may include: • Physical exam and history; • Blood chemistry studies; • Urinalysis; • Liver function tests; • Ultrasound exam; • Computed tomography (CT) scan; • Magnetic resonance imaging (MRI); and • Biopsy. Physical findings: Symptoms of RMC include: • Blood in urine; • Flank pain; • Loss of appetite; • Unexplained weight loss; • Fever; • Night sweats; • Abdominal mass; • Low red blood cell count; and • Swelling in the lower body. ICD-9: 189.0 ICD-10: C64.9; C7A.093
PROGRESSION	The prognosis for people with RMC is dismal with a current median overall survival of about 13 months. Generally, by the time most people are diagnosed, the cancer has spread to the lymph nodes or other organs. The survival rate is within 2 years regardless of treatment and therapy.
TREATMENT	Due to the rarity of the disease, there is no standard of care for RMC. Many of the therapies that are used for other kidney cancers do not work against RMC. Initial chemotherapy is most commonly employed with subsequent consideration for surgery or additional chemotherapy. Other specific therapeutic procedures may include radiation therapy or other therapies.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: • Clinical history and physical examination; • Results of imaging (CT scan, MRI, ultrasound); and • Biopsy to determine if the SMARCB1 gene is present or nonexistent.
Suggested Listings for Evaluation:
DETERMINATION	LISTINGS	REMARKS
Meets	13.21 A or B	Metastatic disease is typically present at diagnosis and should be evaluated under listing 13.21 B.
Equals
*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022 TN 73 - Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS) - 8/12/2024

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