782736007: Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755539011	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3755540013	Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3755541012	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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