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.;
Origin ID : 612149960;
UMLS CUI : C1832444;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency isan inborn
error of metabolism characterised by hypo- or oligodontia and acanthosis nigricans.