Perforin Deficiency

Preferred Label : Perforin Deficiency;

NCIt definition : A condition of decreased or absent presence of perforin. Deficiency of this protein is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma.;

NCI Metathesaurus CUI : CL504865;

Détails

Origin ID

C126292;

UMLS CUI

C4288409;

Currated CISMeF NLP mapping
- Perforin deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_mapped_to_gene
- PRF1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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