Short-Limb skeletal dysplasia with severe combined immunodeficiency

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

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0566284;

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]
Related record
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH Supplementary 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]