OMOP Concept 36714383
17q11.2 microduplication syndrome
StandardConditionSNOMED719583002Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to 17q11.2 microduplication syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567173 | NF1 Microduplication Syndrome | Non-standard |
Synonyms
Alternative names recorded for 17q11.2 microduplication syndrome across source vocabularies.
- 17q11.2 microduplication syndrome (disorder)
- Grisart Destree syndrome
- síndrome de Grisart Destree
- síndrome de microduplicación 17q11.2
- síndrome de microduplicación 17q11.2 (trastorno)
- trisomía 17q11.2
- Trisomy 17q11.2
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(31)Roll up to these when you need a wider cohort.
- 117q partial trisomy syndrome
- 1Autosomal dominant hereditary disorder
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 2Autosomal hereditary disorder
- 2Developmental disorder
- 2Genetic disease
- 2Hereditary disease
- 2Intellectual disability
- 2Partial trisomy of chromosome 17
- 3Abnormal behavior
- 3Anomaly of chromosome pair 17
- 3Disease
- 3Impaired cognition
- 3Intellectual ability - finding
- 3Neurodevelopmental disorder
- 3Trisomy and partial trisomy of autosome
- 4Anomaly of chromosome pair
- 4Autosomal duplication
- 4Behavior finding
- 4Clinical finding
- 4Cognitive function finding
- 4Congenital chromosomal disease
- 4Intelligence finding
- 5Autosomal chromosomal disorder
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