adenosine deaminase deficiency - CISMeF

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CISMeF

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Adenosine deaminase deficiencySNOMED Notion

Preferred Label : adenosine deaminase deficiency;

Details

Origin ID

D6-40800;

UMLS CUI

C0268124;

Currated CISMeF NLP mapping
- ADA deficiency [MedDRA LLT]
- Adenosine Deaminase Deficiency [NCIt concept]
- Adenosine deaminase [ADA] deficiency [ICD-10 Sub-category]
- Adenosine deaminase deficiency [MedDRA LLT]
- Adenosine deaminase deficiency [PASCAL descriptor]
- 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.)]
- severe combined immunodeficiency due to adenosine deaminase deficiency [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Other disorders of purine and pyrimidine metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Disorder of purine metabolism [ORDO Disease]
- Severe combined immunodeficiency [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- adenosine deaminase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- Adenosine deaminase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ADA deficiency [MedDRA LLT]
- Adenosine Deaminase Deficiency [NCIt concept]
- 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]

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29/05/2025

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