Kniest dysplasia

Preferred Label : Kniest dysplasia;

ICD-11 definition : Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).;

Details

Origin ID

2088691719;

UMLS CUI

C0265279;

Automatic exact mappings (from CISMeF team)
- Kniest dysplasia [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Kniest Dysplasia [NCIt concept]
- Kniest dysplasia [OMIM Phenotype]
- Kniest dysplasia [ORDO Disease]
- Kniest dysplasia [DO Concept]
- Kniest dysplasia [MeSH concept]
- Kniest dysplasia (disorder) [SNOMED CT concept]
- Kniest syndrome [PASCAL descriptor]
- kniest dysplasia [MeSH Supplementary Concept]
- kniest dysplasia [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kniest Dysplasia [NCIt concept]
- Kniest dysplasia [DO Concept]
- Kniest dysplasia [OMIM Phenotype]
- Kniest dysplasia [MeSH concept]
- Kniest dysplasia [ORDO Disease]
- Kniest dysplasia [MedDRA Preferred Term]
- Kniest dysplasia (disorder) [SNOMED CT concept]
- Kniest syndrome [PASCAL descriptor]
- kniest dysplasia [MeSH Supplementary Concept]
- kniest dysplasia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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