Intellectual developmental syndrome with alopecia, contractures, and dwarfism

Preferred Label : Intellectual developmental syndrome with alopecia, contractures, and dwarfism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Acd mental retardation syndrome; Alopecia-contractures-dwarfism mental retardation syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 203550;

Details

Origin ID

203550;

UMLS CUI

C0795895;

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 mental retardation [MeSH concept]
- Alopecia-contractures-dwarfism-intellectual disability syndrome [ORDO Disease]
- alopecia contractures dwarfism mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Dolichocephaly [HPO term]
- Flexion contracture [HPO term]
- Generalized hypoplasia of dental enamel [HPO term]
- Hip dislocation [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Large fleshy ears [HPO term]
- Myopia [HPO term]
- Prominent nose [HPO term]
- Severe growth retardation [HPO term]
- Severe postnatal growth retardation [HPO term]
- Severe short stature [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Telecanthus [HPO term]
- Thoracic kyphoscoliosis [HPO term]
- Turricephaly [HPO term]
- Turridolichocephaly [HPO term]
ORDO concept(s)
- Alopecia-contractures-dwarfism-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alopecia contractures dwarfism mental retardation [MeSH concept]
- Alopecia-contractures-dwarfism-intellectual disability syndrome [ORDO Disease]
- alopecia contractures dwarfism mental retardation [MeSH Supplementary Concept]

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