Spondyloperipheral Dysplasia

Preferred Label : Spondyloperipheral Dysplasia;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.;

Details

Origin ID

C135088;

UMLS CUI

C0796173;

Automatic exact mappings (from CISMeF team)
- spondyloperipheral dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Spondyloperipheral dysplasia [OMIM Phenotype]
- Spondyloperipheral dysplasia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloperipheral dysplasia [OMIM Phenotype]
- Spondyloperipheral dysplasia (disorder) [SNOMED CT concept]
- Spondyloperipheral dysplasia - short ulna [ICD-11 More detail]
- Spondyloperipheral dysplasia short ulna [MeSH concept]
- Spondyloperipheral dysplasia-short ulna syndrome [ORDO Disease]
- familial spondyloepiphyseal dysplasia [Disease (Nov.)]
- spondyloperipheral dysplasia short ulna [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Spondyloperipheral dysplasia - short ulna [ICD-11 More detail]
- Spondyloperipheral dysplasia short ulna [MeSH concept]
- familial spondyloepiphyseal dysplasia [Disease (Nov.)]
- spondyloperipheral dysplasia short ulna [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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