OMOP Concept 4179989
Autosomal recessive SCID (severe combined immunodeficiency disease)
StandardConditionSNOMED362993009Disorder
Maps from
3
Descendants
25
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
3 source codes normalize to Autosomal recessive SCID (severe combined immunodeficiency disease) via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 190993005 | Autosomal recessive severe combined immunodeficiency | Non-standard |
| Nebraska Lexicon | 362993009 | Autosomal recessive severe combined immunodeficiency disease | Non-standard |
| Read | C392000 | Recessive agammaglobulinaemia | Non-standard |
Synonyms
Alternative names recorded for Autosomal recessive SCID (severe combined immunodeficiency disease) across source vocabularies.
- Autosomal recessive severe combined immunodeficiency disease
- Autosomal recessive severe combined immunodeficiency disease (disorder)
- inmunodeficiencia combinada severa autosómica recesiva
- inmunodeficiencia combinada severa autosómica recesiva (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Severe combined immunodeficiency disease
- 2Autosomal hereditary disorder
- 2Combined immunodeficiency disease
- 2Congenital immunodeficiency disease
- 2Hereditary disorder of immune system
- 3Congenital disease
- 3Disorder of immune function
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Immunodeficiency disorder
- 3Primary immune deficiency disorder
- 4Disease
- 4Disorder of body system
- 4Disorder of fetus and/or newborn
- 4Genetic disease
- 5Clinical finding
Narrower concepts
(25)Included automatically when you query with descendants.
- 1Adenosine deaminase deficiency
- 1Autosomal recessive T- B+ severe combined immunodeficiency due to CD3D mutation
- 1Autosomal recessive T- B+ severe combined immunodeficiency due to CD3E mutation
- 1Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation
- 1Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation
- 1Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency
- 1Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency
- 1Combined immunodeficiency due to CD3gamma deficiency
- 1Combined immunodeficiency due to partial RAG1 deficiency
- 1Combined immunodeficiency due to ZAP70 deficiency
- 1Hepatic veno-occlusive disease with immunodeficiency syndrome
- 1LIG4 syndrome
- 1Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome
- 1Severe combined immunodeficiency due to CORO1A deficiency
- 1Severe combined immunodeficiency due to CTPS1 deficiency
- 1Severe combined immunodeficiency due to DCLRE1C deficiency
- 1Severe combined immunodeficiency due to IKK2 deficiency
- 1Severe combined immunodeficiency due to LAT deficiency
- 1Severe combined immunodeficiency due to LCK deficiency
- 1Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
- 1Severe combined immunodeficiency with hypereosinophilia
- 1Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
- 1Short-limb skeletal dysplasia with severe combined immunodeficiency
- 1T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency
- 2Adenosine deaminase 2 deficiency
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