deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

Preferred Label : deafness, autosomal dominant 39, with dentinogenesis imperfecta 1;

MeSH note : mutation in DSPP;

CISMeF synonym : DFNA39/Dentinogenesis imperfecta 1 syndrome;

MeSH synonym : DFNA39-Dentinogenesis Imperfecta 1 Syndrome;

Details

Origin ID

C565316;

UMLS CUI

C1854146;

Currated CISMeF NLP mapping
- Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- dentinogenesis imperfecta [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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