773419004: Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism 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\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723483016	Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3723484010	Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723485011	Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3723486012	A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12.	en	Definition	Active	Case sensitive	SNOMED CT core
3723487015	A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioural disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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