63247009: Williams syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams 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\Williams syndrome

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

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome

\Disease\Genetic disease\Williams syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 7\7q partial monosomy\Williams syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7q partial monosomy\Williams syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Williams syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Williams syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Williams syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Williams syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Williams syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Williams syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Williams syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 7\7q partial monosomy\Williams syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7q partial monosomy\Williams syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Williams syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Williams syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Williams syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Williams 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

105139014 Williams syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

802509010 Williams syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

1232445010 William syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3791530012 Williams Beuren syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3791531011 Deletion 7q11.23 en Synonym Active Entire term case insensitive SNOMED CT core module

3791532016 Monosomy 7q11.23 en Synonym Active Entire term case insensitive SNOMED CT core module

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
Williams syndrome	Is a	Anomaly of chromosome pair 7	false	Inferred relationship	Existential restriction modifier
Williams syndrome	Is a	Multiple malformation syndrome, moderate short stature, facial	false	Inferred relationship	Existential restriction modifier
Williams syndrome	Finding site	Chromosome pair 7	false	Inferred relationship	Existential restriction modifier	1
Williams syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	4
Williams syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Williams syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier
Williams syndrome	Finding site	Urinary tract structure	false	Inferred relationship	Existential restriction modifier
Williams syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Williams syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Williams syndrome	Finding site	Urinary system structure	false	Inferred relationship	Existential restriction modifier	3
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Williams syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Williams syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	1
Williams syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier	2
Williams syndrome	Finding site	Chromosome pair 7	true	Inferred relationship	Existential restriction modifier	2
Williams syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Williams syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Williams syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Williams syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	5
Williams syndrome	Is a	Congenital connective tissue disorder	true	Inferred relationship	Existential restriction modifier
Williams syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Williams syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Williams syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Williams syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Existential restriction modifier	3
Williams syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Williams syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Williams syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Williams syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Williams syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Williams syndrome	Is a	7q partial monosomy	true	Inferred relationship	Existential restriction modifier
Williams syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Williams syndrome	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Williams syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	4
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Williams syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Williams syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
105139014	Williams syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
802509010	Williams syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1232445010	William syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3791530012	Williams Beuren syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3791531011	Deletion 7q11.23	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3791532016	Monosomy 7q11.23	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module