alopecia contractures dwarfism mental retardation

Preferred Label : alopecia contractures dwarfism mental retardation;

MeSH note : Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency;

MeSH synonym : alopecia-contractures-dwarfism mental retardation syndrome; ACD mental retardation syndrome;

Details

Origin ID

C537051;

UMLS CUI

C0795895;

Automatic exact mappings (from CISMeF team)
- ACD shelterin complex subunit and telomerase recruitment factor [ORDO Gene]
- Adult form of celiac disease (disorder) [SNOMED CT concept]
- Amyloidosis, primary localized cutaneous, 3 [OMIM Phenotype]
- Congenital dyserythropoietic anemia (disorder) [SNOMED CT concept]
- Corneal dystrophy, avellino type [OMIM Phenotype]
- Right coronary artery [FMA entity]
CISMeF manual mappings
- Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alopecia - contractures - dwarfism - intellectual deficit [ICD-11 More detail]
- Alopecia-contractures-dwarfism-intellectual disability syndrome [ORDO Disease]
- Intellectual developmental syndrome with alopecia, contractures, and dwarfism [OMIM Phenotype]
False automatic mappings
- Dacarbazine (substance) [SNOMED CT concept]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- contracture [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Alopecia-contractures-dwarfism-intellectual disability syndrome [ORDO Disease]
Record concept(s)
- Alopecia contractures dwarfism mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alopecia-contractures-dwarfism-intellectual disability syndrome [ORDO Disease]
- Intellectual developmental syndrome with alopecia, contractures, and dwarfism [OMIM Phenotype]

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