spondylometaphyseal dysplasia, algerian type

Preferred Label : spondylometaphyseal dysplasia, algerian type;

MeSH synonym : spondylometaphyseal dysplasia with severe genu valgum; spondylometaphyseal dysplasia, schmidt type;

Détails

Origin ID

C535794;

UMLS CUI

C1866688;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia Schmidt type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Schmidt type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- Spondylometaphyseal dysplasia, algerian type [OMIM Phenotype]
Has phenotype(s) (HPO)
- Dwarfism [HPO term]
- Proximal radial shortening [HPO term]
- Severe metaphyseal changes of long bones [HPO term]
- Small pelvis [HPO term]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Spondylometaphyseal dysplasia, Algerian type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia Schmidt type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- Spondylometaphyseal dysplasia, Schmidt type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, algerian type [OMIM Phenotype]
- spondylometaphyseal dysplasia Algerian type [DO Concept]

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