Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux

Preferred Label : Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux;

CISMeF acronym : HSAN1B; HSN1B;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : HSAN1B; Neuropathy, hereditary sensory and autonomic, type ib; Neuropathy, hereditary sensory, type ib; HSN1B;

Description : The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction. For a discussion of genetic heterogeneity of HSAN, see HSAN1 (162400).;

Inheritance : Autosomal dominant;

Prefixed ID : %608088;

Details

Origin ID

608088;

UMLS CUI

C1842586;

Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy Type IB [ICD-11 More detail]
- Hereditary sensory and autonomic neuropathy type 1B [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 1B (disorder) [SNOMED CT concept]
- hereditary sensory neuropathy type 1B [DO Concept]
- neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux [MeSH Supplementary Concept]
- neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux [MeSH concept]
DO Cross reference
- hereditary sensory neuropathy type 1B [DO Concept]
HPO term(s)
- Alacrima [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cough [HPO term]
- Distal sensory impairment [HPO term]
- Distal sensory loss, upper and lower limbs [HPO term]
- Gastroesophageal reflux [HPO term]
- Hoarse voice [HPO term]
- Impotence [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory axonal neuropathy [HPO term]
- Syncope [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 1B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory and autonomic neuropathy type 1B [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 1B (disorder) [SNOMED CT concept]
- hereditary sensory neuropathy type 1B [DO Concept]
- neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux [MeSH Supplementary Concept]
- neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux [MeSH concept]

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