Kniest Dysplasia

Preferred Label : Kniest Dysplasia;

NCIt definition : A rare, autosomal dominant inherited bone growth disorder caused by mutations in the COL2A1gene. It is characterized by short stature (dwarfism) and other skeletal abnormalities, round, flat face with bulging and wide-set eyes, myopia and retinal detachment that can lead to blindness.;

Details

Origin ID

C125594;

UMLS CUI

C0265279;

Automatic exact mappings (from CISMeF team)
- Kniest dysplasia [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Kniest dysplasia [ORDO Disease]
- Kniest dysplasia [OMIM Phenotype]
- Kniest dysplasia [DO Concept]
- Kniest dysplasia [MeSH concept]
- Kniest dysplasia [ICD-11 More detail]
- Kniest dysplasia (disorder) [SNOMED CT concept]
- Kniest dysplasia (disorder) [Inactive SNOMED CT concept]
- Kniest syndrome [PASCAL descriptor]
- kniest dysplasia [SNOMED Notion]
- kniest dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kniest dysplasia [ORDO Disease]
- Kniest dysplasia [DO Concept]
- Kniest dysplasia [OMIM Phenotype]
- Kniest dysplasia [MeSH concept]
- Kniest dysplasia [ICD-11 More detail]
- Kniest dysplasia [MedDRA Preferred Term]
- Kniest dysplasia (disorder) [SNOMED CT concept]
- Kniest syndrome [PASCAL descriptor]
- kniest dysplasia [SNOMED Notion]
- kniest dysplasia [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- COL2A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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