severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative

Preferred Label : severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0563740;

UMLS CUI

C1833275;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency 104, severe combined [OMIM Phenotype]
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive [OMIM Phenotype]
Currated CISMeF NLP mapping
- JAK3-deficient Severe Combined Immunodeficiency [NCIt concept]
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative [OMIM Phenotype]
False automatic mappings
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive [DO Concept]
Related record
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- JAK3-deficient Severe Combined Immunodeficiency [NCIt concept]
- Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative [OMIM Phenotype]

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