1236843008: Phosphodiesterase 4D haploinsufficiency syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Phosphodiesterase 4D haploinsufficiency syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Phosphodiesterase 4D haploinsufficiency syndrome
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Phosphodiesterase 4D haploinsufficiency syndrome
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Phosphodiesterase 4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Developmental delay\Phosphodiesterase 4D haploinsufficiency syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Aug 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5089270010	PDE4D haploinsufficiency syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5089271014	Phosphodiesterase 4D haploinsufficiency syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5089272019	Phosphodiesterase 4D haploinsufficiency syndrome	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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