OMOP Concept 35622909
Proximal 16p11.2 microduplication syndrome
StandardConditionSNOMED765142003Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2018
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Proximal 16p11.2 microduplication syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 765142003 | Proximal 16p11.2 microduplication syndrome | Non-standard |
Synonyms
Alternative names recorded for Proximal 16p11.2 microduplication syndrome across source vocabularies.
- Proximal 16p11.2 microduplication syndrome (disorder)
- Proximal trisomy 16p11.2
- síndrome de microduplicación 16p11.2 proximal
- síndrome de microduplicación 16p11.2 proximal (trastorno)
- trisomía proximal 16p11.2
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(16)Roll up to these when you need a wider cohort.
- 1Congenital malformation
- 1Duplication of part of short arm of chromosome 16
- 2Congenital disease
- 2Developmental disorder
- 2Partial trisomy of chromosome 16
- 3Anomaly of chromosome pair 16
- 3Disease
- 3Disorder of fetus and/or newborn
- 3Trisomy and partial trisomy of autosome
- 4Anomaly of chromosome pair
- 4Autosomal duplication
- 4Clinical finding
- 4Congenital chromosomal disease
- 5Autosomal chromosomal disorder
- 5Chromosomal disorder
- 5Duplication of chromosome
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