Dentinogenesis Imperfecta

Preferred Label : Dentinogenesis Imperfecta;

NCIt definition : A congenital tooth development disorder caused by mutations in the DSPP gene. The teeth are weak, discolored, and translucent.;

Details

Origin ID

C84667;

UMLS CUI

C0011436;

Currated CISMeF NLP mapping
- Dentinogenesis imperfecta [ICD-11 Subcategory]
- Dentinogenesis imperfecta [MedDRA LLT]
- Dentinogenesis imperfecta [HPO term]
- Dentinogenesis imperfecta [MedDRA Preferred Term]
- Dentinogenesis imperfecta [ORDO Disease]
- Dentinogenesis imperfecta (disorder) [SNOMED CT concept]
- dentinogenesis imperfecta [DO Concept]
- dentinogenesis imperfecta [Disease (Nov.)]
- dentinogenesis imperfecta [MeSH Descriptor]
- dentinogenesis imperfecta [MeSH concept]
- dentinogenesis imperfecta [SNOMED Notion]
DO Cross reference
- dentinogenesis imperfecta [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Dentinogenesis imperfecta [MedDRA Preferred Term]
- Dentinogenesis imperfecta [ORDO Disease]
- Dentinogenesis imperfecta [HPO term]
- Dentinogenesis imperfecta [MedDRA LLT]
- Dentinogenesis imperfecta (disorder) [SNOMED CT concept]
- Rare disease with dentinogenesis imperfecta [ORDO Disease]
- dentinogenesis imperfecta [DO Concept]
- dentinogenesis imperfecta [Disease (Nov.)]
- dentinogenesis imperfecta [MeSH concept]
- dentinogenesis imperfecta [MeSH Descriptor]
- dentinogenesis imperfecta [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DSPP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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