OMOP Concept 37165251
Lamb Shaffer syndrome
StandardConditionSNOMED1251453008Disorder
Maps from
0
Descendants
2
Valid from
30 Sept 2022
Valid to
31 Dec 2099
OMOP concepts
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Synonyms
Alternative names recorded for Lamb Shaffer syndrome across source vocabularies.
- Lamb Shaffer syndrome (disorder)
- síndrome de haploinsuficiencia SOX5
- síndrome de Lamb Shaffer
- síndrome de Lamb Shaffer (trastorno)
- SOX5 haploinsufficiency syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(31)Roll up to these when you need a wider cohort.
- 1Genetic intellectual disability
- 1Global developmental delay
- 1Multiple malformation syndrome with facial defects as major feature
- 1Neurodevelopmental delay
- 2Congenital anomaly of face
- 2Developmental delay
- 2Genetic disease
- 2Intellectual disability
- 2Multiple system malformation syndrome
- 2Neurodevelopmental disorder
- 3Abnormal behavior
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
- 3Developmental disorder
- 3Disease
- 3Disorder of face
- 3Impaired cognition
- 3Intellectual ability - finding
- 4Behavior finding
- 4Clinical finding
- 4Cognitive function finding
- 4Congenital malformation
- 4Disorder of head
- 4Finding of face
- 4Intelligence finding
Showing 25 of 31. Retrieve the full set via the API.
Narrower concepts
(2)Included automatically when you query with descendants.
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