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

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

MeSH synonym : SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive;

Details

Origin ID

C563311;

UMLS CUI

C1832322;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency 104 [OMIM Phenotype]
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative [OMIM Phenotype]
Currated CISMeF NLP mapping
- 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-negative, Nk cell-positive [DO Concept]
MeSH term(s) associated for indexing
- immunologic deficiency syndromes [MeSH Descriptor]
- severe combined immunodeficiency [MeSH Descriptor]
Record concept(s)
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency due to complete RAG1/2 deficiency [ORDO Disease]
- 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-negative, Nk cell-positive [DO Concept]

Keyword's position in hierarchy(ies) :

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