Short-Limb skeletal dysplasia with severe combined immunodeficiency

Preferred Label : Short-Limb skeletal dysplasia with severe combined immunodeficiency;

MeSH synonym : achondroplasia, So-Called, and severe combined immunodeficiency;

Details

Origin ID

C565984;

UMLS CUI

C1860168;

Currated CISMeF NLP mapping
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ICD-11 More detail]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ORDO Disease]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [OMIM Phenotype]
- Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- achondroplasia [MeSH Descriptor]
- severe combined immunodeficiency [MeSH Descriptor]
Record concept(s)
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short-limb skeletal dysplasia with severe combined immunodeficiency [OMIM Phenotype]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ICD-11 More detail]
- Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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