Kabuki syndrome

Preferred Label : Kabuki syndrome;

ICD-11 definition : Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.;

Details

Origin ID

1104246467;

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 [MeSH concept]
- Kabuki syndrome [ORDO Disease]
- Kabuki syndrome [OMIM phenotypic series]
- Kabuki syndrome 1 [OMIM Phenotype]
- kabuki syndrome [MeSH Supplementary Concept]

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