Kleefstra syndrome

Preferred Label : Kleefstra syndrome;

ICD-11 definition : Kleefstra syndrome is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.;

Details

Origin ID

1997337437;

Automatic exact mappings (from CISMeF team)
- Kleefstra syndrome [MedDRA Preferred Term]
- Kleefstra syndrome [OMIM phenotypic series]
- Kleefstra syndrome [DO Concept]
Currated CISMeF NLP mapping
- Kleefstra Syndrome [NCIt concept]
- Kleefstra Syndrome [Disease (Nov.)]
- Kleefstra Syndrome [DO Concept]
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome (disorder) [SNOMED CT concept]
- Kleefstra syndrome 1 [DO Concept]
- kleefstra syndrome [MeSH concept]
- kleefstra syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Kleefstra syndrome 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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