deafness enamel hypoplasia nail defects

Preferred Label : deafness enamel hypoplasia nail defects;

MeSH synonym : sensorineural hearing loss, enamel hypoplasia, and nail abnormalities; bilateral sensorineural hearing loss, enamel hypoplasia and nail defects; heimler syndrome; hearing loss, sensorineural, with enamel hypoplasia and nail defects;

Details

Origin ID

C535994;

UMLS CUI

C1856186;

Automatic exact mappings (from CISMeF team)
- Deafness – enamel hypoplasia – nail defects [ICD-11 More detail]
CISMeF manual mappings
- Deafness, enamel hypoplasia, nail defect syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Deafness-enamel hypoplasia-nail defects syndrome [ORDO Disease]
- Heimler syndrome 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- amelogenesis imperfecta [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- nails, malformed [MeSH Descriptor]
ORDO relation(s)
- Deafness-enamel hypoplasia-nail defects syndrome [ORDO Disease]
Record concept(s)
- Deafness enamel hypoplasia nail defects [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, enamel hypoplasia, nail defect syndrome (disorder) [SNOMED CT concept]
- Deafness-enamel hypoplasia-nail defects syndrome [ORDO Disease]
- Heimler syndrome 1 [OMIM Phenotype]

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