1208987006: Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features 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\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features 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\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features 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\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Obesity (disorder)\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5013861019	PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5013862014	PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5013863016	Pleckstrin homology domain interacting protein-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013864010	Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013865011	Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013866012	Chung Jansen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399892019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399893012	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by variable developmental delay and intellectual disability, overweight or obesity, behavioural abnormalities (including hyperactivity, aggressive behaviour, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.	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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