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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Genetic disease\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4589476019	Angelman syndrome due to maternal monosomy 15q11q13	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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