1162462009: Angelman syndrome due to maternal monosomy 15q11q13 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \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\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Genetic disease\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4589475015	Angelman syndrome due to maternal monosomy 15q11q13 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4589476019	Angelman syndrome due to maternal monosomy 15q11q13	en	Synonym	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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