Neuropathy, Recurrent, with Pressure Palsies

Preferred Label : Neuropathy, Recurrent, with Pressure Palsies;

NCIt synonyms : Hereditary Neuropathy with Liability to Pressure Palsies; HNPP;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PMP22 gene, encoding peripheral myelin protein 22. Neuropathy is precipitated by mechanical compression on a nerve, typically with onset in the first and second decades.;

Details

Origin ID

C176898;

UMLS CUI

C5444131;

Currated CISMeF NLP mapping
- Hereditary neuropathy with liability to pressure palsies [MedDRA Preferred Term]
- Hereditary neuropathy with liability to pressure palsies [ORDO Disease]
- Neuropathy, hereditary, with liability to pressure palsies [OMIM Phenotype]
- Tomaculous neuropathy [PASCAL descriptor]
- hereditary neuropathy with liability to pressure palsies [DO Concept]
- tomaculous neuropathy [MeSH Supplementary Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- peripheral myelin protein 22 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PMP22 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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