Geleophysic dysplasia

Preferred Label : Geleophysic dysplasia;

ICD-11 definition : Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy).;

Details

Origin ID

518828851;

UMLS CUI

C3489726;

Automatic exact mappings (from CISMeF team)
- Geleophysic dysplasia [OMIM phenotypic series]
- geleophysic dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Geleophysic dwarfism [MeSH concept]
- Geleophysic dysplasia [MedDRA LLT]
- Geleophysic dysplasia [ORDO Disease]
- Geleophysic dysplasia (disorder) [SNOMED CT concept]
- geleophysic dysplasia [SNOMED Notion]
- geleophysic dysplasia [Disease (Nov.)]
See also inter- (CISMeF)
- acromicric dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Geleophysic dwarfism [MeSH concept]
- Geleophysic dysplasia [MedDRA LLT]
- Geleophysic dysplasia [ORDO Disease]
- Geleophysic dysplasia (disorder) [SNOMED CT concept]
- geleophysic dysplasia [Disease (Nov.)]
- geleophysic dysplasia [SNOMED Notion]
- geleophysic dysplasia [DO Concept]

Keyword's position in hierarchy(ies) :

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