76880004: Angelman syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding by site\Finding of body region\Finding of head and neck region\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
\Finding by site\Finding of body region\Finding of head and neck region\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
\Finding by site\Finding of body region\Finding of head and neck region\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
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Angelman syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Finding by site\Disorder by body site (disorder)\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\Genetic disease\Angelman syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Angelman syndrome
\Disease\Disorder by body site (disorder)\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 by body site (disorder)\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\Mental disorder\Developmental mental disorder\Intellectual disability\Angelman syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)\Multiple malformation syndrome with facial defects as major feature\Angelman syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental 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:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
127638013	Angelman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
127639017	Happy puppet syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
817648018	Angelman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1234038018	Angelman's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)

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	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Angelman syndrome	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Angelman syndrome	Is a	Genetic disease	true	Inferred relationship	Some
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	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Angelman syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Angelman syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
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	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Angelman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Angelman syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Angelman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Angelman syndrome	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	2
Angelman syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
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	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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