766824003: Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \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\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Mental illness\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662756012	Helsmoortel-van der Aa syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3662757015	ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
3662758013	Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662759017	Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder	en	Synonym	Active	Case insensitive	SNOMED CT core
3662760010	Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastrooesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodelling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited.	en	Definition	Active	Case sensitive	SNOMED CT core
3662761014	Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastroesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Mental health disorder reference set

Problem/Diagnosis reference set

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