Acrofacial Dysostosis

Preferred Label : Acrofacial Dysostosis;

NCIt definition : A group of rare genetic syndromes characterized by craniofacial and limb defects.;

Details

Origin ID

C35795;

UMLS CUI

C1332140;

Automatic exact mappings (from CISMeF team)
- Acrofacial dysostoses [ICD-11 Subcategory]
- Acrofacial dysostosis [ORDO Disease]
Currated CISMeF NLP mapping
- acrofacial dysostosis [DO Concept]
DO Cross reference
- Nager acrofacial dysostosis [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective Tissue [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nager acrofacial dysostosis [DO Concept]
- acrofacial dysostosis [DO Concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]

Keyword's position in hierarchy(ies) :

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