Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2

Preferred Label : Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2;

NCIt synonyms : SEMDJL2;

CISMeF synonym : short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity;

NCIt definition : A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.;

Details

Origin ID

C125419;

UMLS CUI

C1863732;

Automatic exact mappings (from CISMeF team)
- spondyloepimetaphyseal dysplasia with joint laxity type 2 [DO Concept]
Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2 [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia with multiple dislocations [ORDO Disease]
- Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia - multiple dislocations [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2 [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia with multiple dislocations [ORDO Disease]
- Spondyloepimetaphyseal dysplasia with multiple dislocations [MeSH concept]
- Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia with multiple dislocations [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
- KIF22 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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