719157002: X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \General finding of soft tissue\Poor muscle tone\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive 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\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Muscle finding\Muscle tone - finding\Poor muscle tone\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Musculoskeletal finding\Poor muscle tone\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Mental illness\Developmental mental disorder\Disruptive behaviour disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disruptive behaviour disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315194016	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3315195015	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3315196019	X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3315186011	This syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.	en	Definition	Active	Case sensitive	SNOMED CT core
3315187019	This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Mental health disorder reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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