OMOP Concept 36713992
14q11.2 microdeletion syndrome
StandardConditionSNOMED719047001Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to 14q11.2 microdeletion syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 719047001 | 14q11.2 microdeletion syndrome | Non-standard |
Synonyms
Alternative names recorded for 14q11.2 microdeletion syndrome across source vocabularies.
- 14q11.2 microdeletion syndrome (disorder)
- Monosomy 14q11.2
- síndrome de microdeleción 14q11.2
- síndrome de microdeleción 14q11.2 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Multiple malformation syndrome with facial defects as major feature
- 1Partial deletion of long arm of chromosome 14
- 2Congenital anomaly of face
- 2Deletion of part of chromosome 14
- 2Multiple system malformation syndrome
- 3Anomaly of chromosome pair 14
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
- 3Deletion of part of autosome
- 3Disorder of face
- 4Anomaly of chromosome pair
- 4Congenital malformation
- 4Disorder of head
- 4Finding of face
- 4Monosomy and deletion from autosome
- 5Congenital chromosomal disease
- 5Congenital disease
- 5Developmental disorder
- 5Disease
- 5Finding of head region
- 5Head finding
- 6Chromosomal disorder
- 6Clinical finding
- 6Disorder of fetus and/or newborn
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