Spondylometaphyseal dysplasia with combined immunodeficiency

Preferred Label : Spondylometaphyseal dysplasia with combined immunodeficiency;

ICD-11 definition : Spondylometaphyseal dysplasia with combined immunodeficiency is characterized by combined immunodeficiency, autoimmunity (that manifests as vitiligo, Crohn's disease, arthritis, thyroiditis, and thrombocytopenia), and spondylometaphyseal dysplasia.;

ICD-11 synonym : Roifman-Melamed syndrome;

Details

Origin ID

687261501;

UMLS CUI

C1842763;

Currated CISMeF NLP mapping
- Spondyloenchondrodysplasia with immune dysregulation [OMIM Phenotype]
- Spondyloenchondrodysplasia with immune dysregulation (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia with combined immunodeficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloenchondrodysplasia with immune dysregulation [OMIM Phenotype]
- Spondyloenchondrodysplasia with immune dysregulation (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia with combined immunodeficiency [ORDO Disease]
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [MeSH concept]
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [MeSH Supplementary Concept]

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