Code System Concept

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Code System Concept

Code System Concept Code	63247009
Code System Concept Name	Williams syndrome (disorder)
Code System Preferred Concept Name	Williams syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
105139014	Williams syndrome	Active	Synonym	false	false
1232445010	William syndrome	Active	Synonym	false	false
3791530012	Williams Beuren syndrome	Active	Synonym	false	false
3791531011	Deletion 7q11.23	Active	Synonym	false	false
3791532016	Monosomy 7q11.23	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Family History (HW)	1
Problem Value Set	3 , 2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

7q partial monosomy (disorder) {81304006 , SNOMED-CT } Anomaly of chromosome pair 7 (disorder) {37367006 , SNOMED-CT } Congenital connective tissue disorder (disorder) {363039000 , SNOMED-CT } Congenital heart disease (disorder) {13213009 , SNOMED-CT } Familial idiopathic hypercalciuria (disorder) {237886009 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT } Multiple malformation syndrome, moderate short stature, facial (disorder) {77701002 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,