Adenosine Deaminase Deficiency

Preferred Label : Adenosine Deaminase Deficiency;

NCIt synonyms : Adenosine Deaminase Severe Combined Immunodeficiency; Adenosine Deaminase Severe Combined Immune Deficiency; ADA-SCID;

NCIt definition : An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.;

Détails

Origin ID

C3962;

UMLS CUI

C0268124;

Automatic exact mappings (from CISMeF team)
- Adenosine deaminase deficiency [MeSH concept]
Currated CISMeF NLP mapping
- ADA deficiency [MedDRA LLT]
- Adenosine deaminase [ADA] deficiency [ICD-10 Sub-category]
- Adenosine deaminase deficiency [PASCAL descriptor]
- Adenosine deaminase deficiency [MedDRA LLT]
- Adenosine deaminase deficiency (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency T- B- due to adenosine deaminase deficiency [ICD-11 More detail]
- Severe combined immunodeficiency due to adenosine deaminase deficiency [MeSH concept]
- Severe combined immunodeficiency due to adenosine deaminase deficiency [ORDO Disease]
- Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency [OMIM Phenotype]
- adenosine deaminase deficiency [DO Concept]
- adenosine deaminase deficiency [Disease (Nov.)]
- adenosine deaminase deficiency [SNOMED Notion]
- severe combined immunodeficiency due to adenosine deaminase deficiency [MeSH Supplementary Concept]
DO Cross reference
- adenosine deaminase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ADA deficiency [MedDRA LLT]
- Adenosine deaminase [ADA] deficiency [ICD-10 Sub-category]
- Adenosine deaminase deficiency [MedDRA LLT]
- Adenosine deaminase deficiency (disorder) [SNOMED CT concept]
- adenosine deaminase deficiency [DO Concept]
- adenosine deaminase deficiency [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_mapped_to_gene
- ADA Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- ADA Gene [NCIt concept]

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

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