Severe Combined Immunodeficiency due to NHEJ1 Deficiency

Preferred Label : Severe Combined Immunodeficiency due to NHEJ1 Deficiency;

NCIt synonyms : NHEJ1-SCID;

NCIt related terms : Cernunnos / XLF deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the NHEJ1 gene, encoding non-homologous end-joining factor 1. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Microcephaly, growth retardation, and sensitivity to ionizing radiation are also characteristic of this disease.;

NCI Metathesaurus CUI : CL973088;

Details

Origin ID

C162695;

UMLS CUI

C4303792;

Currated CISMeF NLP mapping
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- NHEJ1 Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- NHEJ1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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