Spondylometaphyseal dysplasia, Schmidt type

Preferred Label : Spondylometaphyseal dysplasia, Schmidt type;

ICD-11 definition : Spondylometaphyseal dysplasia, Schmidt type is a skeletal dysplasia characterized by short stature, severe genu valgum, small pelvis, progressive kypho-scoliosis, wrist deformity, myopia, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.;

ICD-11 synonym : Spondylometaphyseal dysplasia with severe genu valgum;

Details

Origin ID

1092012084;

UMLS CUI

C1866688;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia Schmidt type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Algerian type [MeSH concept]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- Spondylometaphyseal dysplasia, algerian type [OMIM Phenotype]
- spondylometaphyseal dysplasia, algerian type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia Schmidt type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Algerian type [MeSH concept]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- Spondylometaphyseal dysplasia, algerian type [OMIM Phenotype]
- spondylometaphyseal dysplasia Algerian type [DO Concept]
- spondylometaphyseal dysplasia, algerian type [MeSH Supplementary Concept]

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