familial dysautonomia

Preferred Label : familial dysautonomia;

RADLEX synonyms : Riley-Day syndrome;

Definition : An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (hypotension, orthostatic), fixed pupils, excessive sweating, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4) [MeSH];

UMLS CUI (RADLEX) : C0013364;

Details

Origin ID

RID5269;

UMLS CUI

C0013364;

Associated condition of
- chest abdomen sign [Radlex concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Dysautonomia [NCIt concept]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Hereditary sensory and autonomic neuropathy type III [ICD-11 Subcategory]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Riley-Day syndrome [MedDRA Preferred Term]
- Riley-Day syndrome [DO Concept]
- dysautonomia, familial [MeSH Descriptor]
- dysautonomia, familial [MeSH concept]
- familial dysautonomia [SNOMED Notion]
- familial dysautonomia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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