1208987006: Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features 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\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Functional finding\Cognitive function 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
• \General finding of observation of patient\Body measurement finding\Weight finding\High body weight\Obese\Obesity\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\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\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 anomaly\Congenital malformation syndrome\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 anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome

Status: current, Primitive. 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	Active	Case sensitive	SNOMED CT core
5013862014	PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5013863016	Pleckstrin homology domain interacting protein-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5013864010	Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5013865011	Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5013866012	Chung Jansen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5013896019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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	Case sensitive	SNOMED CT core
5013897011	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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