severe combined immunodeficiency due to adenosine deaminase deficiency

Preferred Label : severe combined immunodeficiency due to adenosine deaminase deficiency;

CISMeF synonym : Delayed-/Late-onset adenosine deaminase deficiency; partial ADA deficiency; adenosine deaminase deficiency;

MeSH synonym : SCID1; agammaglobulinemia, swiss type; severe combined immunodeficiency, alymphocytotic type; adenosine deaminase-deficient severe combined immunodeficiency disease; bubble boy disease; SCID due to ADA deficiency, Early-Onset; ADA-SCID; adenosine deaminase deficient severe combined immunodeficiency; severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, nk Cell-Negative, due to adenosine deaminase deficiency; SCID Due to ADA Deficiency;

MeSH Hyperonym : ADA Deficiency;

MeSH hyponym : Adenosine Deaminase Deficiency, Partial; Delayed-Late-Onset Adenosine Deaminase Deficiency; SCID Due to ADA Deficiency, Late-Onset; Partial adenosine deaminase deficiency; SCID Due to ADA Deficiency, Delayed Onset;

Details

Origin ID

C531816;

UMLS CUI

C0392607;

Automatic exact mappings (from CISMeF team)
- Severe combined immunodeficiency due to DCLRE1C deficiency [ORDO Disease]
- Severe combined immunodeficiency due to absent lymphoid stem cells (disorder) [SNOMED CT concept]
- scid due to absent lymphoid stem cells [SNOMED Notion]
Currated CISMeF NLP mapping
- ADA deficiency [MedDRA LLT]
- Adenosine Deaminase Deficiency [NCIt concept]
- 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 [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]
MeSH indexing information
- adenosine deaminase [MeSH Descriptor]
MeSH term(s) associated for indexing
- adenosine deaminase [MeSH Descriptor]
- agammaglobulinemia [MeSH Descriptor]
- severe combined immunodeficiency [MeSH Descriptor]
ORDO relation(s)
- Severe combined immunodeficiency due to adenosine deaminase deficiency [ORDO Disease]
Record concept(s)
- Adenosine deaminase deficiency [MeSH concept]
- Severe combined immunodeficiency due to adenosine deaminase deficiency [MeSH concept]
- partial ADA deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency due to absent lymphoid stem cells (disorder) [SNOMED CT concept]
- scid due to absent lymphoid stem cells [SNOMED Notion]

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