Table 1 Rare diseases included in the IDeaS study, and affiliated ICD and CPT codes
Rare disease | Brief description | ICD code type (ICD-9 or 10) | ICD and CPT code(s) |
|---|---|---|---|
Batten disease (BD) Also known as (aka) Neuronal Ceroid Lipofuscinoses (NCLs) | A group of genetic (inherited) disorders known as lysosomal storage disorders (LSDs) that result in progressive neurodegeneration due to accumulation of undigested cellular materials primarily in the Central Nervous System (CNS). BD is due to mutations in ~ 20 genes, with different types of BD having varying age of onset and disease progression. Clinical manifestations include seizures, cognitive and motor decline, and vision loss, among others | ICD-9 | 330.1 (cerebral lipidoses), 334.3 |
ICD-10 | E75.4 (neuronal ceroid lipofuscinosis), G11.1 | ||
Charcot Marie Tooth (CMT) | Group of inherited disorders where motor and/or sensory peripheral nerves degenerate over time, resulting in muscle weakness, wasting, and sensory loss, caused by abnormalities in the nerve axon or the myelin sheath around the long part of the nerve called the axon. Some signs and symptoms include muscle weakness, decreased muscle size, and decreased sensation, among others | ICD-9 And CPT | 356.1 (Peroneal muscular atrophy) 81,324 (PMP22 (peripheral myelin protein 22) (eg; Charcot-Marie-Tooth; hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis), 81,325, 81,326 |
ICD-10 And CPT | G60.0 (Hereditary motor and sensory neuropathy) 81,324 [PMP22 (peripheral myelin protein 22)] (Duplication/Deletion DNA Test), 81,325 (PMP22), 81,326 (PMP22) | ||
Cystic fibrosis (CF) | Progressive genetic disease due to mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. CF results in the accumulation of mucous in various cells and tissues which leads to persistent lung infections, nutritional problems, and other manifestations | ICD-9 | 277.00 (cystic fibrosis, without mention of meconium ileus), 277.0, 277.01, 277.02, 277.03, 277.09 |
ICD-10 | E84.9 (cystic fibrosis, unspecified), E84.0, E84.19, E84.11, E84.8 | ||
Eosinophilic esophagitis (EOE) | Chronic allergic inflammatory disorder of the digestive system characterized by large numbers of a certain white blood cell, the eosinophil, present in the esophagus. Common signs and symptoms include vomiting, stomach or chest pain, and difficulty swallowing or eating, among others | ICD-9 | 530.13 (eosinophilic esophagitis) |
ICD-10 | K20.0 (eosinophilic esophagitis) | ||
Focal and segmental glomerulosclerosis (FSGS) | Type of kidney disease that damages the filtering units (glomeruli) inside the kidney, resulting in scarring (sclerosis) and decrease of function within the kidney. Signs and symptoms can include swelling in body parts (e.g., legs), high blood pressure, loss of large amounts of protein in the urine, and high cholesterol, among others | ICD-9 | 581.1 (nephrotic syndrome with lesion of membranous glomerulonephritis), 581.2, 581.0, 581.3 |
ICD-10 | N04.1 (nephrotic syndrome with focal and segmental glomerular lesions), N04.0, N04.2, N04.7, N03.1 | ||
Hereditary hemorrhagic telangiectasia (HHT) aka Osler-Weber-Rendu disease | Inherited disorder that causes abnormal connections between arteries and veins, called arteriovenous malformations (AVMs), most commonly in the nose, lung, brain and liver. This can result in bleeding episodes such as nosebleeds, gastrointestinal (GI) tract bleeding (hemorrhaging), anemia, and strokes, among others | ICD-9 | 448.0 (hereditary hemorrhagic telangiectasia), 448.9 |
ICD-10 | I78.0 (hereditary hemorrhagic telangiectasia) | ||
Lennox Gastaut syndrome (LGS) | A severe condition characterized by recurrent seizures (epilepsy) that begin early in life (typically between the ages of 3–5 years). Affected people have multiple types of seizures, changes in brain activity seen on electroencephalogram (EEG) and intellectual impairment | ICD-9 | 345.01 (generalized nonconvulsive epilepsy, with intractable epilepsy), 345.00, 345.0, 345.1 |
ICD-10 | G40.812 (Lennox Gastaut syndrome, not intractable, without status epilepticus), G40.811, G40.813, G40.814 | ||
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) | A multisystem disorder characterized by progressive degeneration of the muscles of the GI tract and peripheral nerves, weakness of the eye muscles, arms and legs, and generalized wasting (cachexia), among others. MNGIE is one of the mitochondrial disorders, which are due to genetic mutations in the mitochondrial DNA. Mitochondria are present in virtually every cell in the body and generate most of the energy for a cell. Because energy is essential for tissues to function, mitochondrial diseases typically affect multiple organs in the body | ICD-9 | 277.87 (disorders of mitochondrial metabolism) |
ICD-10 | E88.49 (other mitochondrial metabolism disorders) | ||
Muscular dystrophy (MD) | A group of genetic diseases that damage or weaken muscles over time. There are several different types of MD that vary in the muscle groups affects, rates of progression, and signs and symptoms. Common signs and symptoms include trouble walking, breathing or swallowing, curvature of the spine and poor posture, drooping facial muscles or eyelids, among others | ICD-9 | 359.1 (hereditary progressive muscular dystrophy), 359.0, 359.21, 359.22, 359.23, 359.29, 359.9 |
ICD-10 | G71.0 (muscular dystrophy), G71.00 (muscular dystrophy, unspecified), G71.01 (Duchenne and Becker), G71.02, G71.09, G71.11 | ||
Osteogenesis imperfecta (OI) | Group of genetic diseases that mainly affect the bones, resulting in weak or malformed bones. OI is a group of several disorders that affect collagen, the underlying structural protein in bone, skin and other connective tissues, and vary in rates of severity and progression. Also referred to as “brittle bone disease”, OI can result in bones that break easily, often from mild trauma or from no apparent cause | ICD-9 | 756.51 (Osteogenesis Imperfecta) |
ICD-10 | Q78.0 (Osteogenesis Imperfecta) | ||
Pheochromocytoma (Pheo) | Rare type of tumor that usually arises from cells in the adrenal gland (chromaffic cells). The adrenals are located above each kidney. Pheo are usually benign, but cause the adrenal gland to make too many of certain hormones (e.g., catecholamines) that can lead to high blood pressure, and cause symptoms such as headaches and sweating | ICD-9 preceded by CPT | 227.0 (benign neoplasm of adrenal gland) CPT: 82,384, 82,382, 83,835 |
ICD-10 preceded by CPT | C74.10 (Malignant neoplasm of medulla of unspecified adrenal gland), C96.20, C96.29, D35.00 CPT: 82,382 (Catecholamines), 82,384 (Catecholamines, fractionated, 24-h urine without creatinine), 83,835 (Metanephrines, Fractionated, Free, LC/MS/MS, Plasma) | ||
Sickle cell disease (SCD) | Inherited group of red blood cell disorders characterized by atypical hemoglobin molecules called hemoglobin S, which distort red blood cells into a sickle or crescent shape. Sickled cells can obstruct blood vessels leading to repeated episodes of pain (crises), infections, strokes, and bone/joint injury and among others | ICD-9 | 282.60 (sickle cell disease, unspecified), 282.41, 282.42, 282.61, 282.62, 282.63, 282.64, 282.68, 282.69, 282.6 |
ICD-10 | D57.1 (sickle cell disease without crisis), D57.20, D57.00, D57.01, D57.02, D57.211, D57.212, D57.219, D57.40, D57.412, D57.411, D57.419, D57.812, D57.811, D57.819, D57.80, | ||
Takayasu’s arteritis (TA) | Rare type of vasculitis. Vasculitis is a group of disorders causing blood vessel inflammation. TA is a large vessel vasculitis that affects the aorta and its main branches, which carry blood from the heart to the rest of the body. Common signs and symptoms include arm or chest pain, high blood pressure, and narrowed, blocked or weakened arteries that can result in heart failure or stroke, among others | ICD-9 | 446.7 (takayasu’s disease) |
ICD-10 | M31.4 (aortic arch syndrome—Takayasu) | ||
Urea cycle disorder (UCD) | An inherited group of disorders that result in deficiency or absence of the activity of several enzymes (proteins) in the urea cycle, which affects how the body metabolizes (breaks down) amino acids (the building blocks of proteins). UCDs can result in the accumulation of ammonia, a toxic substance in the blood that can cause brain damage, coma and death | ICD-9 | 270.6 (disorders of urea cycle metabolism) |
ICD-10 | E72.20 (disorder of urea cycle metabolism, unspecified), E72.2, E72.21, E72.22, E72.23, E72.29, E72.4 |