Short-limb skeletal dysplasia with severe combined immunodeficiency

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

ICD-11 definition : Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.;

ICD-11 synonym : severe combined immunodeficiency with short-limbed dwarfism; SCID with short-limbed dwarfism; lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome; short-limbed immunodeficiency; immunodeficiency with short-limbed stature; Achondroplasia - severe combined immunodeficiency; SCID - [severe combined immunodeficiency] with short-limbed dwarfism; Immunodeficiency with short limb dwarfism; Achondroplasia or Swiss-type agammaglobulinaemia;

Details

Origin ID

469016488;

UMLS CUI

C1860168;

Currated CISMeF NLP mapping
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH concept]
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH Supplementary Concept]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [OMIM Phenotype]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [ORDO Disease]
- Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Achondroplasia and Swiss type agammaglobulinemia [MeSH concept]
- Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome (disorder) [SNOMED CT concept]
- achondroplasia and swiss type agammaglobulinemia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH concept]
- Short-Limb skeletal dysplasia with severe combined immunodeficiency [MeSH Supplementary Concept]
- Short-limb skeletal dysplasia with severe combined immunodeficiency [OMIM Phenotype]
- Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Immunodeficiency with short-limbed stature [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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