amelogenesis imperfecta, type IB

Preferred Label : amelogenesis imperfecta, type IB;

MeSH note : mutation in enamelin;

MeSH synonym : enamel hypoplasia, hereditary localized; amelogenesis imperfecta, hypoplastic local, autosomal dominant;

Details

Origin ID

C562879;

UMLS CUI

C0399368;

Automatic exact mappings (from CISMeF team)
- amelogenesis imperfecta type 1B [DO Concept]
Currated CISMeF NLP mapping
- Amelogenesis imperfecta - hypoplastic autosomal dominant - local (disorder) [SNOMED CT concept]
- Amelogenesis imperfecta, type ib [OMIM Phenotype]
MeSH term(s) associated for indexing
- amelogenesis imperfecta [MeSH Descriptor]
Record concept(s)
- amelogenesis imperfecta, type IB [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amelogenesis imperfecta - hypoplastic autosomal dominant - local (disorder) [SNOMED CT concept]
- Amelogenesis imperfecta, type ib [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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