OMOP Concept 36714383
17q11.2 microduplication syndrome
StandardConditionSNOMED719583002Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to 17q11.2 microduplication syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567173 | NF1 Microduplication Syndrome | Non-standard |
| Nebraska Lexicon | 719583002 | 17q11.2 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
(29)Roll up to these when you need a wider cohort.
- 117q partial trisomy syndrome
- 1Autosomal dominant hereditary disorder
- 1Developmental hereditary disorder
- 1Intellectual disability
- 2Autosomal hereditary disorder
- 2Behavior finding
- 2Developmental disorder
- 2Hereditary disease
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Neurodevelopmental disorder
- 2Partial trisomy of chromosome 17
- 3Anomaly of chromosome pair 17
- 3Cognitive function finding
- 3Disease
- 3Genetic disease
- 3Intelligence finding
- 3Mental state, behavior and/or psychosocial function finding
- 3Trisomy and partial trisomy of autosome
- 4Anomaly of chromosome pair
- 4Autosomal duplication
- 4Clinical finding
- 4Congenital chromosomal disease
- 4Functional finding
- 5Autosomal chromosomal disorder
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