Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive

Preferred Label : Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive;

NCIt definition : An autosomal recessive severe combined immunodeficiency, the phenotype of which is caused by mutation(s) in the IL7R or PTPRC genes, encoding interleukin-7 receptor subunit alpha and receptor-type tyrosine-protein phosphatase C (CD45) respectively.;

Details

Origin ID

C176804;

UMLS CUI

C1837028;

Currated CISMeF NLP mapping
- Immunodeficiency 104, severe combined [OMIM Phenotype]
- Severe combined immunodeficiency T-B+ due to CD45 deficiency [ICD-11 More detail]
- T-B+ severe combined immunodeficiency due to CD45 deficiency [ORDO Disease]
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency [ORDO Disease]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH concept]
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 104, severe combined [OMIM Phenotype]
- T-B+ severe combined immunodeficiency due to CD45 deficiency [ORDO Disease]
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency [ORDO Disease]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

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