1260130005: Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Finding of movement\Movement disorder\Essential tremor\Hereditary essential tremor\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour 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\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary essential tremor\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary essential tremor\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Disorder of body system\Neurological disorder\Essential tremor\Hereditary essential tremor\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary essential tremor\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Mental illness\Behavioural syndrome associated with physiological disturbance and physical factors\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Mental illness\Chronic mental disorder\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Movement disorder\Essential tremor\Hereditary essential tremor\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Chronic disease\Chronic mental disorder\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome

Status: current, Primitive. Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5159288014	Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5159289018	Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5159290010	Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5159291014	A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum and prominent chin.	en	Definition	Active	Case sensitive	SNOMED CT core
5159292019	A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum and prominent chin.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Mental health disorder reference set

Problem/Diagnosis reference set

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