Alopecia - contractures - dwarfism - intellectual deficit

Preferred Label : Alopecia - contractures - dwarfism - intellectual deficit;

ICD-11 definition : Alopecia-contractures-dwarfism-intellectual deficit syndrome is characterised by the association of alopecia/sparse hair with severe growth retardation of prenatal onset, multiple joint contractures (elbows, fingers, and knees) and fusions of various bones, and microcephaly with intellectual deficit.;

Details

Origin ID

1535062958;

Currated CISMeF NLP mapping
- Alopecia contractures dwarfism mental retardation [MeSH concept]
- Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alopecia-contractures-dwarfism-intellectual disability syndrome [ORDO Disease]
- Intellectual developmental syndrome with alopecia, contractures, and dwarfism [OMIM Phenotype]
- alopecia contractures dwarfism mental retardation [MeSH Supplementary Concept]

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