1236843008: Phosphodiesterase 4D haploinsufficiency syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\PDE4D haploinsufficiency syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D 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\PDE4D 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\PDE4D 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\PDE4D haploinsufficiency syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\PDE4D haploinsufficiency syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\PDE4D haploinsufficiency syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\PDE4D haploinsufficiency syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D 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\PDE4D 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\PDE4D haploinsufficiency syndrome
• \Disease\Congenital disease\Congenital anomaly\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\PDE4D haploinsufficiency syndrome
• \Disease\Congenital disease\Congenital anomaly\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\PDE4D haploinsufficiency syndrome
• \Disease\Congenital disease\Congenital anomaly\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\PDE4D haploinsufficiency syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Congenital anomaly\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\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Congenital anomaly\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\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Congenital anomaly\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\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder\Developmental delay\PDE4D haploinsufficiency syndrome

Status: current, Primitive. Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5089270010	PDE4D haploinsufficiency syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5089271014	Phosphodiesterase 4D haploinsufficiency syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5089272019	Phosphodiesterase 4D haploinsufficiency syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5089273012	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability with characteristics of developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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