kabuki syndrome

Preferred Label : kabuki syndrome;

MeSH synonym : kabuki make up syndrome; Niikawa-Kuroki syndrome; kabuki Make-Up syndrome; kabuki makeup syndrome;

Details

Origin ID

C537705;

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]
DO Cross reference
- Kabuki syndrome [DO Concept]
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]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- face [MeSH Descriptor]
- hematologic diseases [MeSH Descriptor]
- vestibular diseases [MeSH Descriptor]
ORDO relation(s)
- Kabuki syndrome [ORDO Disease]
Record concept(s)
- Kabuki syndrome [MeSH 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]

Keyword's position in hierarchy(ies) :

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