hereditary sensory and autonomic neuropathy type ie

Preferred Label : hereditary sensory and autonomic neuropathy type ie;

MeSH synonym : hsnie; hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss; hsn ie; Dnmt1-Related dementia, deafness, and sensory neuropathy; hereditary sensory neuropathy type ie;

Is substance : O;

Details

Origin ID

C580162;

UMLS CUI

C3279885;

Automatic exact mappings (from CISMeF team)
- FSCN1 wt Allele [NCIt concept]
- Hereditary sensory neuropathy type V [PASCAL descriptor]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Neuropathy, hereditary sensory and autonomic, type V [OMIM Phenotype]
- Neuropathy, hereditary sensory, type id [OMIM Phenotype]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy Type IE [ICD-11 More detail]
- 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 neuropathy type 1E [DO Concept]
MeSH term(s) associated for indexing
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
Record concept(s)
- hereditary sensory and autonomic neuropathy type ie [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory and autonomic neuropathy Type IE [ICD-11 More detail]
- 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 neuropathy type 1E [DO Concept]

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