783089006: Macrocephaly, intellectual disability, autism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Mental illness\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757538016	Macrocephaly, intellectual disability, autism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757539012	Macrocephaly, intellectual disability, autism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3757540014	A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum.	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

Problem/Diagnosis reference set

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