OMOP Concept 4120785
Microcephaly, normal intelligence and immunodeficiency
StandardConditionSNOMED234638009Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Microcephaly, normal intelligence and immunodeficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | D049932 | Nijmegen Breakage Syndrome | Non-standard |
| Nebraska Lexicon | 234638009 | Microcephaly, normal intelligence and immunodeficiency | Non-standard |
Synonyms
Alternative names recorded for Microcephaly, normal intelligence and immunodeficiency across source vocabularies.
- microcefalia, inteligencia normal e inmunodeficiencia
- microcefalia, inteligencia normal e inmunodeficiencia (trastorno)
- Microcephaly, normal intelligence and immunodeficiency (disorder)
- NBS - Nijmegen breakage syndrome
- Nijmegen breakage syndrome
- Seemanova syndrome II
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(13)Roll up to these when you need a wider cohort.
- 1Disorder of immune structure
- 1Hereditary cancer-predisposing syndrome
- 1Hereditary disorder of immune system
- 1Immunodeficiency associated with chromosomal abnormality
- 2Disorder of body system
- 2Disorder of immune function
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Primary immune deficiency disorder
- 3Disease
- 3Genetic disease
- 3Immunodeficiency disorder
- 4Clinical finding
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