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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Genetic disease\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\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 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Angelman syndrome\Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
• \Disease\Developmental disorder (disorder)\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
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
6007751000241119	syndrome d'Angelman dû à la monosomie maternelle 15q11q13	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6007761000241116	SA (syndrome d'Angelman) dû à une délétion 15q11q13 d'origine maternelle	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6007771000241112	syndrome d'Angelman dû à une monosomie 15q11-13 d'origine maternelle	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6007751000241119	syndrome d'Angelman dû à la monosomie maternelle 15q11q13	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6007761000241116	SA (syndrome d'Angelman) dû à une délétion 15q11q13 d'origine maternelle	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6007771000241112	syndrome d'Angelman dû à une monosomie 15q11-13 d'origine maternelle	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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