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;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564122;

UMLS CUI

C1837028;

Automatic exact mappings (from CISMeF team)
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive [OMIM Phenotype]
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative [OMIM Phenotype]
Currated CISMeF NLP mapping
- Immunodeficiency 104, severe combined [OMIM Phenotype]
- Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive [NCIt concept]
- 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 [DO Concept]
Related record
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 104, severe combined [OMIM Phenotype]
- Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive [NCIt concept]
- 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 [DO Concept]

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