1187041000: Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux 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\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux 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\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux 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\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Disease\Genetic disease\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux 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\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux 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\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux 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\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4669041016	Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669042011	STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669043018	Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669044012	STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669045013	Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399550017	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399551018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastro-oesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669041016	Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669042011	STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669043018	Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669044012	STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669045013	Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669046014	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, variable degrees of intellectual disability and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastrooesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669047017	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399550017	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399551018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastro-oesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3416981001000116	Intelligenzminderung-Gesichtsdysmorphie-gastroösophagealer Reflux-Syndrom, STAG1-assoziiert	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416981001000116	Intelligenzminderung-Gesichtsdysmorphie-gastroösophagealer Reflux-Syndrom, STAG1-assoziiert	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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