OMOP Concept 36717427
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
StandardConditionSNOMED720853005Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 720853005 | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome | Non-standard |
Synonyms
Alternative names recorded for Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome across source vocabularies.
- Cernunnos-XLF deficiency
- NHEJ1 (non-homologous end joining factor) syndrome
- Severe combined immunodeficiency due to Cernunnos protein deficiency
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
- síndrome de inmunodeficiencia combinada severa, microcefalia, retardo del crecimiento y sensibilidad a radiación ionizante
- síndrome de inmunodeficiencia combinada severa, microcefalia, retardo del crecimiento y sensibilidad a radiación ionizante (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(33)Roll up to these when you need a wider cohort.
- 1Autosomal recessive SCID (severe combined immunodeficiency disease)
- 1Developmental hereditary disorder
- 1Multiple malformation syndrome with facial defects as major feature
- 1Severe combined immunodeficiency with low T- and B-cell numbers
- 2Autosomal recessive hereditary disorder
- 2Congenital anomaly of face
- 2Developmental disorder
- 2Disorder of immune structure
- 2Hereditary disease
- 2Multiple system malformation syndrome
- 2Severe combined immunodeficiency disease
- 3Autosomal hereditary disorder
- 3Combined immunodeficiency disease
- 3Congenital anomaly of head
- 3Congenital immunodeficiency disease
- 3Congenital malformation syndrome
- 3Disease
- 3Disorder of body system
- 3Disorder of face
- 3Genetic disease
- 3Hereditary disorder of immune system
- 4Clinical finding
- 4Congenital disease
- 4Congenital malformation
- 4Disorder of head
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