OMOP Concept 29783
Severe combined immunodeficiency disease
StandardConditionSNOMED31323000Disorder
Maps from
5
Descendants
49
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
5 source codes normalize to Severe combined immunodeficiency disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 126633 | Severe combined immunodeficiency disease | Non-standard |
| CIEL | 159334 | X-linked severe combined immunodeficiency | Non-standard |
| HPO | HP_0004430 | Severe combined immunodeficiency | Non-standard |
| MeSH | D016511 | Severe Combined Immunodeficiency | Non-standard |
| Read | C392100 | Severe combined immunodeficiency | Non-standard |
Synonyms
Alternative names recorded for Severe combined immunodeficiency disease across source vocabularies.
- Combined T-cell and B-cell immunodeficiency
- inmunodeficiencia combinada severa
- inmunodeficiencia combinada severa (trastorno)
- SCID - severe combined immunodeficiency
- Severe combined immunodeficiency
- Severe combined immunodeficiency disease (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Combined immunodeficiency disease
- 1Congenital immunodeficiency disease
- 1Hereditary disorder of immune system
- 2Congenital disease
- 2Disorder of immune function
- 2Hereditary disorder by system
- 2Immunodeficiency disorder
- 2Primary immune deficiency disorder
- 3Disease
- 3Disorder of body system
- 3Fetal and/or neonatal disorder
- 3Hereditary disease
- 4Clinical finding
- 4Genetic disease
Narrower concepts
(49)Included automatically when you query with descendants.
- 1Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
- 1Autosomal recessive SCID (severe combined immunodeficiency disease)
- 1Nezelof's syndrome
- 1SCID due to absent IL-2 receptor
- 1SCID (severe combined immunodeficiency) due to absent adenosine deaminase
- 1SCID (severe combined immunodeficiency) due to absent IL-2 (interleukin-2) production
- 1SCID (severe combined immunodeficiency) due to absent lymphoid stem cells
- 1SCID (severe combined immunodeficiency) due to absent peripheral T cell maturation
- 1SCID (severe combined immunodeficiency) due to absent T cell receptor
- 1Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency
- 1Severe combined immunodeficiency with low or normal B-cell numbers
- 1Severe combined immunodeficiency with low T- and B-cell numbers
- 1Severe combined immunodeficiency with maternofetal engraftment
- 1T-cell negative B-cell positive severe combined immunodeficiency
- 1Warts, hypogammaglobulinemia, infections, and myelokathexis
- 2Adenosine deaminase deficiency
- 2Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect
- 2Autosomal recessive severe combined immunodeficiency due to DNA POLD3 deficiency
- 2Autosomal recessive T- B+ severe combined immunodeficiency due to CD3D mutation
- 2Autosomal recessive T- B+ severe combined immunodeficiency due to CD3E mutation
- 2Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
- 2Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation
- 2Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency
- 2Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency
- 2Combined immunodeficiency due to CD3gamma deficiency
Showing 25 of 49. Retrieve the full set via the API.
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