76880004: Angelman syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\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

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Angelman syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Angelman syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Angelman syndrome

\Disease\Genetic disease\Angelman syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Angelman syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Angelman syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\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\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\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

127638013 Angelman syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

127639017 Happy puppet syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

817648018 Angelman syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

1234038018 Angelman's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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	Existential restriction modifier
Angelman syndrome	Is a	Anomaly of chromosome pair 15	false	Inferred relationship	Existential restriction modifier
Angelman syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Existential restriction modifier
Angelman syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier
Angelman syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier
Angelman syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Angelman syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Finding site	Chromosome pair 15	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Existential restriction modifier
Angelman syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Angelman syndrome	Finding site	Chromosome pair 15	false	Inferred relationship	Existential restriction modifier	3
Angelman syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier	3
Angelman syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Angelman syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Angelman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Angelman syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Angelman syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Angelman syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Angelman syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Angelman syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Angelman syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Angelman syndrome due to maternal monosomy 15q11q13	Is a	True	Angelman syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
127638013	Angelman syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
127639017	Happy puppet syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
817648018	Angelman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1234038018	Angelman's syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module