Ectodermal dysplasia with natal teeth, Turnpenny type

Preferred Label : Ectodermal dysplasia with natal teeth, Turnpenny type;

ICD-11 definition : Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency isan inborn error of metabolism characterised by hypo- or oligodontia and acanthosis nigricans.;

Details

Origin ID

612149960;

UMLS CUI

C1832444;

Currated CISMeF NLP mapping
- Ectodermal dysplasia with natal teeth Turnpenny type (disorder) [SNOMED CT concept]
- Ectodermal dysplasia with natal teeth, Turnpenny type [ORDO Disease]
- Ectodermal dysplasia with natal teeth, turnpenny type [OMIM Phenotype]
- ectodermal dysplasia with natal teeth, turnpenny type [MeSH Supplementary Concept]
- ectodermal dysplasia with natal teeth, turnpenny type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia with natal teeth Turnpenny type (disorder) [SNOMED CT concept]
- Ectodermal dysplasia with natal teeth, Turnpenny type [ORDO Disease]
- Ectodermal dysplasia with natal teeth, turnpenny type [OMIM Phenotype]
- ectodermal dysplasia with natal teeth, turnpenny type [MeSH concept]
- ectodermal dysplasia with natal teeth, turnpenny type [MeSH Supplementary Concept]

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