Severe Combined Immunodeficiency, Athabascan Type

Preferred Label : Severe Combined Immunodeficiency, Athabascan Type;

NCIt synonyms : Severe Combined Immunodeficiency, Athabaskan Type; ART-SCID; RS-SCID; Artemis-Deficient Severe Combined Immunodeficiency; Artemis-Deficient SCID;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the DCLRE1C gene, encoding protein artemis. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Sensitivity to ionizing radiation and a high incidence of occurrence amongst the Athabascan Indians are also characteristic of this disease.;

Details

Origin ID

C162694;

UMLS CUI

C1865371;

Automatic exact mappings (from CISMeF team)
- Severe combined immunodeficiency due to DCLRE1C deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Severe combined immunodeficiency with sensitivity to ionizing radiation [OMIM Phenotype]
- severe combined immunodeficiency with sensitivity to ionizing radiation [MeSH Supplementary Concept]
- severe combined immunodeficiency with sensitivity to ionizing radiation [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder) [SNOMED CT concept]
- athabaskan severe combined immunodeficiency [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- DCLRE1C Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- DCLRE1C Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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