Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia

Preferred Label : Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %609324;

Details

Origin ID

609324;

UMLS CUI

C1836315;

Currated CISMeF NLP mapping
- Multiple epiphyseal dysplasia with severe proximal femoral dysplasia [ICD-11 More detail]
- Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia [ORDO Disease]
- epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia [MeSH concept]
- epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the hand [HPO term]
- Arthralgia [HPO term]
- Arthralgia of the hip [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad femoral neck [HPO term]
- Coxa vara [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flared femoral metaphysis [HPO term]
- Flared irregular metaphyses [HPO term]
- Flat distal femoral epiphysis [HPO term]
- Genu valgum [HPO term]
- Irregularity of vertebral bodies [HPO term]
- Mild platyspondyly [HPO term]
- Platyspondyly [HPO term]
- Proximal femoral metaphyseal irregularity [HPO term]
- Short femoral neck [HPO term]
- Short stature [HPO term]
- Short, wide femoral neck [HPO term]
ORDO concept(s)
- Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia [ORDO Disease]
- epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia [MeSH Supplementary Concept]
- epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia [MeSH concept]

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