OMOP Concept 36713991
12q14 microdeletion syndrome
StandardConditionSNOMED719046005Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for 12q14 microdeletion syndrome across source vocabularies.
- 12q14 microdeletion syndrome (disorder)
- Monosomy 12q14
- Osteopoikilosis with short stature and intellectual disability syndrome
- síndrome de microdeleción 12q14
- síndrome de microdeleción 12q14 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(55)Roll up to these when you need a wider cohort.
- 1Deletion of part of long arm of chromosome 12
- 1Intellectual disability
- 1Osteopoikilosis
- 1Short stature disorder
- 2Abnormal behavior
- 2Congenital anomaly of skeletal bone
- 2Deletion of part of chromosome 12
- 2Disorder of stature
- 2Dysplasia with increased bone density
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Lesion of bone
- 2Neurodevelopmental disorder
- 2Short stature
- 3Anomaly of chromosome pair 12
- 3Behavior finding
- 3Body height below reference range
- 3Bone density above reference range
- 3Cognitive function finding
- 3Congenital anomaly of musculoskeletal system
- 3Deletion of part of autosome
- 3Developmental disorder
- 3Disorder of bone
- 3Disorder of bone development
- 3Finding of general physiological development
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