76880004: Angelman-syndroom (aandoening)

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
\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
\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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Angelman syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Angelman syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Angelman syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Angelman syndrome

\Disease\Genetic disease\Angelman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Angelman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Angelman syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Angelman syndrome
\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
\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
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Angelman syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Angelman syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Angelman syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Angelman syndrome	Is a	Anomaly of chromosome pair 15	false	Inferred relationship	Some
Angelman syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Angelman syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Angelman syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Angelman syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Angelman syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Angelman syndrome	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Angelman syndrome	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Angelman syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Angelman syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Angelman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Angelman syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Angelman syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Angelman syndrome	Finding site	Chromosome pair 15	false	Inferred relationship	Some	3
Angelman syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	3
Angelman syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Angelman syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Angelman syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Angelman syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Angelman syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Angelman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Angelman syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Angelman syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Angelman syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Angelman syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Angelman syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Angelman syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Angelman syndrome due to maternal monosomy 15q11q13 (disorder)	Is a	True	Angelman syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
127638013	Angelman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
127639017	Happy puppet syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
817648018	Angelman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1234038018	Angelman's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6585291000146110	syndroom van Angelman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6585301000146114	'happy puppet'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6585311000146111	Angelman-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6585321000146118	AS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10659601000146113	Angelman-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13082801000146117	Syndroom met als kenmerken een verstandelijke achterstand, houterige motoriek, plotselinge lachbuien en epilepsie.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)