Spondyloepimetaphyseal dysplasia, irapa type

Preferred Label : Spondyloepimetaphyseal dysplasia, irapa type;

Symbol : SEMDIT;

CISMeF acronym : SEMDIT;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %271650;

Details

Origin ID

271650;

UMLS CUI

C0432213;

Currated CISMeF NLP mapping
- Autosomal recessive spondyloepimetaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia Irapa type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Irapa type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Irapa type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, irapa type [MeSH concept]
- spondyloepimetaphyseal dysplasia, irapa type [MeSH Supplementary Concept]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad femoral neck [HPO term]
- Broad foot [HPO term]
- Broad palm [HPO term]
- Capitate-hamate fusion [HPO term]
- Coxa vara [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Enlargement of the costochondral junction [HPO term]
- Genu valgum [HPO term]
- Hypoplastic sacrum [HPO term]
- Limited elbow extension [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal dysplasia [HPO term]
- Osteoarthritis [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Short broad hands [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short palm [HPO term]
- Short trunk [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Upper limb undergrowth [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia, Irapa type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spondyloepimetaphyseal dysplasia (disorder) [Inactive SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia Irapa type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Irapa type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Irapa type [ICD-11 More detail]
- spondyloepimetaphyseal dysplasia, irapa type [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, irapa type [MeSH concept]

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