Spondylometaphyseal dysplasia, Kozlowski type

Preferred Label : Spondylometaphyseal dysplasia, Kozlowski type;

ICD-11 definition : Spondylometaphyseal dysplasia (SED), Kozlowski type is a form of SED characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.;

Details

Origin ID

360868302;

UMLS CUI

C0265280;

Automatic exact mappings (from CISMeF team)
- spondylometaphyseal dysplasia Kozlowski type [DO Concept]
Currated CISMeF NLP mapping
- Kozlowski spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Kozlowski type [ORDO Disease]
- Spondylometaphyseal dysplasia, Kozlowski type [MeSH concept]
- Spondylometaphyseal dysplasia, kozlowski type [OMIM Phenotype]
- kozlowski spondylometaphyseal dysplasia [SNOMED Notion]
- spondylometaphyseal dysplasia, kozlowski type [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kozlowski spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Kozlowski type [MeSH concept]
- Spondylometaphyseal dysplasia, Kozlowski type [ORDO Disease]
- Spondylometaphyseal dysplasia, kozlowski type [OMIM Phenotype]
- kozlowski spondylometaphyseal dysplasia [SNOMED Notion]
- spondylometaphyseal dysplasia Kozlowski type [DO Concept]
- spondylometaphyseal dysplasia, kozlowski type [MeSH Supplementary Concept]

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