Acrocapitofemoral dysplasia

Preferred Label : Acrocapitofemoral dysplasia;

ICD-11 definition : Acrocapitofemoral dysplasia is a skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.;

Details

Origin ID

687396416;

UMLS CUI

C1843096;

Currated CISMeF NLP mapping
- Acrocapitofemoral dysplasia [OMIM Phenotype]
- Acrocapitofemoral dysplasia [ORDO Disease]
- Acrocapitofemoral dysplasia (disorder) [SNOMED CT concept]
- acrocapitofemoral dysplasia [MeSH concept]
- acrocapitofemoral dysplasia [MeSH Supplementary Concept]
- acrocapitofemoral dysplasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocapitofemoral dysplasia [OMIM Phenotype]
- Acrocapitofemoral dysplasia [ORDO Disease]
- Acrocapitofemoral dysplasia (disorder) [SNOMED CT concept]
- acrocapitofemoral dysplasia [DO Concept]
- acrocapitofemoral dysplasia [MeSH concept]
- acrocapitofemoral dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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