CD70 Deficiency

Preferred Label : CD70 Deficiency;

NCIt definition : A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas.;

NCI Metathesaurus CUI : CL967896;

Details

Origin ID

C168591;

UMLS CUI

C5568559;

Currated CISMeF NLP mapping
- Combined immunodeficiency due to CD70 deficiency [ORDO Disease]
- Combined immunodeficiency due to CD70 deficiency (disorder) [SNOMED CT concept]
- Lymphoproliferative syndrome 3 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to CD70 deficiency (disorder) [SNOMED CT concept]
- Lymphoproliferative syndrome 3 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CD70 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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