766824003: Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (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\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \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\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \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\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Functional finding\Cognitive function finding (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 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\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \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\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
• \Disease\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\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 (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 malformation\Congenital malformation syndrome (disorder)\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 malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662756012	Helsmoortel-van der Aa syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662757015	ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662758013	Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662759017	Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404679015	A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404680017	A rare syndromic intellectual disability characterised by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioural and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.	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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