1187041000: Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Finding of head and neck region\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
• \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
• \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
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\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 (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (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\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\Neurodevelopmental disorder\Intellectual disability\STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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\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\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
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

Expanded Value Set

This concept is not in any reference sets

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