1236843008: Phosphodiesterase 4D haploinsufficiency syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\PDE4D haploinsufficiency syndrome
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\PDE4D haploinsufficiency syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\PDE4D haploinsufficiency syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\PDE4D haploinsufficiency syndrome
• \Disease\Disorder of foetus and/or newborn\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\PDE4D haploinsufficiency syndrome
• \Disease\Disorder of foetus and/or newborn\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\PDE4D haploinsufficiency syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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 (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 (disorder)\Neurodevelopmental disorder\Intelligenzminderung\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder (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\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder (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\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\PDE4D haploinsufficiency syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\PDE4D haploinsufficiency syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5089270010	PDE4D haploinsufficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089271014	Phosphodiesterase 4D haploinsufficiency syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5089272019	Phosphodiesterase 4D haploinsufficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400245016	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400246015	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterised by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089270010	PDE4D haploinsufficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089271014	Phosphodiesterase 4D haploinsufficiency syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5089272019	Phosphodiesterase 4D haploinsufficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400245016	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400246015	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterised by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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