Neuropathy, Hereditary Sensory and Autonomic, Type VII

Preferred Label : Neuropathy, Hereditary Sensory and Autonomic, Type VII;

NCIt synonyms : Hereditary Sensory and Autonomic Neuropathy Type VII; HSAN7;

NCIt definition : A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.;

Details

Origin ID

C125388;

UMLS CUI

C3809882;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory and autonomic neuropathy type 7 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy type 7 [ORDO Disease]
- Neuropathy, hereditary sensory and autonomic, type VII [OMIM Phenotype]
- hereditary sensory and autonomic neuropathy type 7 [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory and autonomic neuropathy type 7 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 7 (disorder) [SNOMED CT concept]
- Neuropathy, hereditary sensory and autonomic, type VII [OMIM Phenotype]
- hereditary sensory and autonomic neuropathy type 7 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- SCN11A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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