Angelman syndrome 76880004

SNOMED CT code

SNOMED code

76880004

name

Angelman syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Angelman syndrome (disorder)

synonyms

Angelman's syndrome
Angelman syndrome
Happy puppet syndrome

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Nervous system structure 25087005

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

attributes - group3

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group4

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
Multiple malformation syndrome with facial defects as major feature 65094009
Genetic disease 782964007
Congenital anomaly of nervous system 88425004

children

Angelman syndrome due to maternal monosomy 15q11q13 1162462009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
Angelman syndrome 76880004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
Angelman syndrome 76880004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Angelman syndrome 76880004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Congenital anomaly of nervous system 88425004
Angelman syndrome 76880004

ancestors

sorted most to least specific

Intellectual disability 110359009
Multiple malformation syndrome with facial defects as major feature 65094009
Genetic disease 782964007
Congenital anomaly of nervous system 88425004
Intellectual ability - finding 365814006
Congenital anomaly of face 398302004
Disorder of nervous system 118940003
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Multiple system malformation syndrome 82354003
Intelligence finding 106137004
Disorder of face 118930001
Disorder of body system 362965005
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Congenital malformation syndrome 400038003
Congenital anomaly of head 87290003
Functional finding 118228005
Disorder of head 118934005
Congenital malformation 276654001
Finding of face 301310005
Developmental disorder 5294002
Finding of head region 298364001
Congenital disease 66091009
Head finding 406122000
Disease 64572001
Finding of head and neck region 118254002
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

Angelman syndrome 76880004

SNOMED CT code