OMOP Concept 36674906
5p13 microduplication syndrome
StandardConditionSNOMED770793002Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for 5p13 microduplication syndrome across source vocabularies.
- 5p13 microduplication syndrome (disorder)
- síndrome de microduplicación 5p13
- síndrome de microduplicación 5p13 (trastorno)
- Trisomy 5p13
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(38)Roll up to these when you need a wider cohort.
- 15p partial trisomy
- 1Genetic intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 2Congenital anomaly of face
- 2Genetic disease
- 2Intellectual disability
- 2Multiple system malformation syndrome
- 2Partial trisomy of chromosome 5
- 3Abnormal behavior
- 3Anomaly of chromosome pair 5
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
- 3Disease
- 3Disorder of face
- 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
- 4Congenital malformation
Showing 25 of 38. Retrieve the full set via the API.
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