HID syndrome - CISMeF

Preferred Label : HID syndrome;

MeSH note : mutation in GJB2;

MeSH synonym : ichthyosis, Hystrix-Like, with deafness; Hystrix-Like ichthyosis with deafness;

Details

Origin ID

C566528;

UMLS CUI

C1865234;

Automatic exact mappings (from CISMeF team)
- Keratitis – ichthyosis – deafness syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Ichthyosis, hystrix-like, with deafness [OMIM Phenotype]
MeSH term(s) associated for indexing
- hearing loss, sensorineural [MeSH Descriptor]
- ichthyosis [MeSH Descriptor]
Record concept(s)
- HID syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis, hystrix-like, with deafness [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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