Hereditary sensory and autonomic neuropathy Type IE

Preferred Label : Hereditary sensory and autonomic neuropathy Type IE;

ICD-11 definition : HASN type IE is an autosomal dominant condition due to mutations in the DNMT1 gene. It presents in child or adulthood with severe sensory loss, ulceromutilation, sensorioneural hearing loss, early onset dementia and no autonomic symptoms.;

ICD-11 synonym : Hereditary sensory autonomic neuropathy Type IE; HSAN1E - [Hereditary sensory autonomic neuropathy Type IE];

ICD-11 acronym : HSAN1E;

Details

Origin ID

469631867;

UMLS CUI

C3279885;

Currated CISMeF NLP mapping
- Hereditary sensory autonomic neuropathy type IE (disorder) [SNOMED CT concept]
- Hereditary sensory neuropathy-deafness-dementia syndrome [ORDO Disease]
- Neuropathy, hereditary sensory, type ie [OMIM Phenotype]
- hereditary sensory and autonomic neuropathy type ie [MeSH Supplementary Concept]
- hereditary sensory and autonomic neuropathy type ie [MeSH concept]
- hereditary sensory neuropathy type 1E [DO Concept]
See also inter- (CISMeF)
- serine palmitoyltransferase long chain base subunit 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory autonomic neuropathy type IE (disorder) [SNOMED CT concept]
- Hereditary sensory neuropathy-deafness-dementia syndrome [ORDO Disease]
- Neuropathy, hereditary sensory, type ie [OMIM Phenotype]
- hereditary sensory and autonomic neuropathy type ie [MeSH concept]
- hereditary sensory and autonomic neuropathy type ie [MeSH Supplementary Concept]
- hereditary sensory neuropathy type 1E [DO Concept]
Validated automatic mappings to NTBT
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]

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