Severe Combined Immunodeficiency

Preferred Label : Severe Combined Immunodeficiency;

NCIt synonyms : Severe Combined Immune Deficiency;

NCIt related terms : SCID; severe combined immunodeficiency disease;

NCIt definition : X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004;

Alternative definition : NICHD: X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004; NCI-GLOSS: A rare, inherited disease that is marked by a lack of B lymphocytes (white blood cells that make antibodies and help fight infections) and a lack of T lymphocytes (white blood cells that attack virus-infected cells, foreign cells, and cancer cells). Patients with this disease have a high risk of developing viral, bacterial, and fungal infections.;

Codes from synonyms : CDR0000615419; CDR0000615418;

Details

Origin ID

C3472;

UMLS CUI

C0085110;

Automatic exact mappings (from CISMeF team)
- DNA cross-link repair 1C [ORDO Gene]
- immune system and disorders [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Severe combined immune deficiency syndrome/SCID [HRDO Sign]
- Severe combined immunodeficiencies [ICD-11 Sub-sub category]
- Severe combined immunodeficiency [PASCAL descriptor]
- Severe combined immunodeficiency [LOINC component]
- Severe combined immunodeficiency [HPO term]
- Severe combined immunodeficiency [ORDO Disease]
- Severe combined immunodeficiency disease (disorder) [SNOMED CT concept]
- severe combined immunodeficiency [DO Concept]
- severe combined immunodeficiency [Disease (Nov.)]
- severe combined immunodeficiency [MeSH Descriptor]
- severe combined immunodeficiency [MeSH concept]
- severe combined immunodeficiency disease, nos [SNOMED Notion]
DO Cross reference
- severe combined immunodeficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immune deficiency syndrome/SCID [HRDO Sign]
- Severe combined immunodeficiencies [ICD-11 Sub-sub category]
- Severe combined immunodeficiency [ORDO Disease]
- Severe combined immunodeficiency [LOINC component]
- Severe combined immunodeficiency [HPO term]
- Severe combined immunodeficiency [PASCAL descriptor]
- Severe combined immunodeficiency disease (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency syndrome [MedDRA LLT]
- severe combined immunodeficiency [DO Concept]
- severe combined immunodeficiency [MeSH concept]
- severe combined immunodeficiency [MeSH Descriptor]
- severe combined immunodeficiency disease, nos [TUV Term]
- severe combined immunodeficiency disease, nos [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Adenosine Deaminase [NCIt concept]
- Calcium Release-Activated Calcium Channel Protein 1 [NCIt concept]
- Cytokine Receptor Common Subunit Gamma [NCIt concept]
- Tyrosine-Protein Kinase ZAP-70 [NCIt concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
disease_has_associated_gene
- ADA Gene [NCIt concept]
- ADA wt Allele [NCIt concept]
- CD3D Gene [NCIt concept]
- CD3D wt Allele [NCIt concept]
- IL2RG Gene [NCIt concept]
- IL2RG wt Allele [NCIt concept]
- IL7R Gene [NCIt concept]
- IL7R wt Allele [NCIt concept]
- JAK3 Gene [NCIt concept]
- JAK3 wt Allele [NCIt concept]
- ORAI1 Gene [NCIt concept]
- ORAI1 wt Allele [NCIt concept]
- PNP Gene [NCIt concept]
- PNP wt Allele [NCIt concept]
- ZAP70 Gene [NCIt concept]
- ZAP70 wt Allele [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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