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63247009: Williams syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Williams syndrome

\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\Williams 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\Williams 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\Williams 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
Williams syndrome	Is a	Familial idiopathic hypercalciuria	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Is a	Anomaly of chromosome pair 7	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Is a	Multiple malformation syndrome, moderate short stature, facial	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Finding site	Chromosome pair 7	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Williams syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Williams syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Finding site	Urinary tract structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Williams syndrome	Finding site	Urinary system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Williams syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Williams syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Williams syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Williams syndrome	Finding site	Chromosome pair 7	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Williams syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Williams syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Williams syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Williams syndrome	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Williams syndrome	Is a	Congenital connective tissue disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Williams syndrome	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Williams syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Williams syndrome	Finding site	Connective tissue structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Williams syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Williams syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Williams syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Williams syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Williams syndrome	Is a	7q partial monosomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Williams syndrome	Is a	Congenital heart disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Williams syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Williams syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
105139014	Williams syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
802509010	Williams syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232445010	William syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3791530012	Williams Beuren syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3791531011	Deletion 7q11.23	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791532016	Monosomy 7q11.23	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
105139014	Williams syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
802509010	Williams syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
802509010	Williams syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232445010	William syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232445010	William syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3791530012	Williams Beuren syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3791531011	Deletion 7q11.23	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3791531011	Deletion 7q11.23	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791532016	Monosomy 7q11.23	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3791532016	Monosomy 7q11.23	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3422321001000112	Williams-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
911741000172113	syndrome de Williams	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
934761000172117	délétion 7q11.23	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
911741000172113	syndrome de Williams	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
934761000172117	délétion 7q11.23	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3422321001000112	Williams-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module