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;
Origin ID : 469016488;
UMLS CUI : C1860168;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
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.
