combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia

Preferred Label : combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia;

MeSH synonym : spondyloenchondrodysplasia with immune dysregulation; SPENCDI;

Details

Origin ID

C564307;

UMLS CUI

C1842763;

Automatic exact mappings (from CISMeF team)
- ACP5 wt Allele [NCIt concept]
- Spondyloenchondrodysplasia with immune dysregulation [OMIM Phenotype]
- Spondyloenchondrodysplasia with immune dysregulation (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- autoimmune diseases [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [MeSH concept]
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]
- Spondylometaphyseal dysplasia with combined immunodeficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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