718848000: Fried syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Fried syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Fried syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Fried syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Hydrocephalus\Fried syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fried syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fried syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fried syndrome
• \Disorder of head\Encephalopathy\Hydrocephalus\Fried syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Fried syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Fried syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Fried syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Fried syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fried syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Fried syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Fried syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Fried syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Fried syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fried syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fried syndrome
• \Disease\Disorder of head\Encephalopathy\Hydrocephalus\Fried syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fried syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fried syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Fried syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Fried syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fried syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fried syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314123013	Fried syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314124019	Fried syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5155226015	A rare X-linked intellectual disability syndrome with characteristics of psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Prevalence is unknown, but the syndrome was originally described in a large Scottish family. Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families.	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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