Kabuki syndrome

Preferred Label : Kabuki syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0532166;

UMLS CUI

C0796004;

Currated CISMeF NLP mapping
- Kabuki Syndrome [NCIt concept]
- Kabuki make-up syndrome [MedDRA Preferred Term]
- Kabuki make-up syndrome (disorder) [SNOMED CT concept]
- Kabuki syndrome [PASCAL descriptor]
- Kabuki syndrome [DO Concept]
- Kabuki syndrome [Disease (Nov.)]
- Kabuki syndrome [ICD-11 More detail]
- Kabuki syndrome [OMIM phenotypic series]
- Kabuki syndrome [ORDO Disease]
- Kabuki syndrome 1 [OMIM Phenotype]
- Niikawa-Kuroki syndrome [MedDRA LLT]
Has phenotype(s) (HPO)
- Broad nasal root [HPO term]
- Feeding difficulties [HPO term]
- High-arched palate [HPO term]
- Large, prominent ears [HPO term]
- Recurrent otitis media in infancy [HPO term]
- Susceptibility to infection [HPO term]
- idiopathic thrombocytopenic purpura [HPO term]
- thick, arched eyebrows [HPO term]
Related record
- kabuki syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Kabuki Syndrome [NCIt concept]
- Kabuki make-up syndrome [MedDRA Preferred Term]
- Kabuki make-up syndrome (disorder) [SNOMED CT concept]
- Kabuki syndrome [ORDO Disease]
- Kabuki syndrome [DO Concept]
- Kabuki syndrome [PASCAL descriptor]
- Kabuki syndrome [Disease (Nov.)]
- Kabuki syndrome 1 [OMIM Phenotype]
- Niikawa-Kuroki syndrome [MedDRA LLT]