deafness, autosomal dominant 1

Preferred Label : deafness, autosomal dominant 1;

MeSH synonym : konigsmark syndrome; hereditary low frequency hearing loss; deafness, progressive low tone;

Details

Origin ID

C565121;

UMLS CUI

C1852282;

Currated CISMeF NLP mapping
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome [ORDO Disease]
- Deafness, autosomal dominant 1, with or without thrombocytopenia [OMIM Phenotype]
- Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- autosomal dominant nonsyndromic deafness 1 [DO Concept]
MeSH term(s) associated for indexing
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- deafness, autosomal dominant 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal dominant 1, with or without thrombocytopenia [OMIM Phenotype]
- autosomal dominant nonsyndromic deafness 1 [DO Concept]

Keyword's position in hierarchy(ies) :

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