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Williams Syndrome (CUI C0175702) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0175702

NCI Thesaurus Code: C85232  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.

GARD Definition: Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.  Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. - this information is from GARD/ORDR/NCATS.

NICHD Definition: A syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes, and characterized by distinctive facial appearance (elfin facies), mild-to-moderate developmental delay, cheerfulness, cardiovascular dysfunction which may include supravalvular aortic stenosis, and endocrine abnormalities, including precocious puberty, hypothyroidism, and infantile hypercalcemia/ hypercalciuria.

CSP Definition: syndrome of elfinlike facies, mental retardation, growth deficiency, cardiovascular anomalies, and idiopathic infantile hypercalcemia.

MSH Definition: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Synonyms & Abbreviations: (see Synonym Details)
Aortic Stenoses, Hypercalcemia-Supravalvar
Aortic Stenosis, Hypercalcemia-Supravalvar
Beuren syndrome
CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB
Chromosome 7q11.23 Deletion Syndrome
Contiguous Gene Syndrome, Williams
elfin facies syndrome
Fanconi Schlesinger syndrome
Hypercalcemia Supravalvar Aortic Stenosis
HYPERCALCEMIA, INFANTILE IDIOPATHIC
Hypercalcemia-Supravalvar Aortic Stenoses
Hypercalcemia-Supravalvar Aortic Stenosis
Stenoses, Hypercalcemia-Supravalvar Aortic
Stenosis, Hypercalcemia-Supravalvar Aortic
Supravalvar Aortic Stenosis Syndrome
Syndrome, Beuren
Syndrome, Williams-Beuren
Syndrome, Williams
WBS
William syndrome
Williams Barratt syndrome
Williams Beuren syndrome
Williams Contiguous Gene Syndrome
Williams syndrome (disorder)
Williams Syndrome [Disease/Finding]
Williams syndrome
Williams-Beuren Syndrome (WBS)
Williams-Beuren syndrome
WMS
WS

External Source Codes: 
NCI Thesaurus Code C85232 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PKy4. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 4006-0100 CSP
DISEASE_IDENTIFIER_ID 6043 GARD
DISEASE_IDENTIFIER_ID 6044 GARD
DISEASE_IDENTIFIER_ID 6045 GARD
DX 19960101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D004549 MSH
FX D008607 MSH
GENELOCUS ,7,q,1,1,.,2,3, OMIM
GENESYMBOL C7DELq11 OMIM
GENESYMBOL DEL7q11 OMIM
GENESYMBOL WBS OMIM
GENESYMBOL WMS OMIM
GENESYMBOL WS OMIM
HAS_GARD_PAGE true GARD
HN 96 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-11-17T00:00:00 GARD
MDA 19950524 MSH
MESH_DEFINITION A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. NDFRT
MESH_DUI D018980 NDFRT
MESH_NAME Williams Syndrome NDFRT
MESH_UI M0028351 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.597.606.643.970 MSH
MN C14.280.484.150.535.960 MSH
MN C16.131.260.970 MSH
MN C16.320.180.970 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Williams Syndrome NCI
NUI N0000003884 NDFRT
PM 96 MSH
PRIMARY_PATH 10049644$10007614$10007510$10010331$Williams syndrome$Cardiac valve disorders congenital$Cardiac and vascular disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7891/williams-syndrome/resources/1 GARD
RXAUI 3135547 RXNORM
RXAUI 3256469 RXNORM
RXAUI 3256470 RXNORM
RXAUI 3256471 RXNORM
RXAUI 3256472 RXNORM
RXAUI 5039068 RXNORM
RXAUI 5930374 RXNORM
RXAUI 5931159 RXNORM
RXAUI 5932321 RXNORM
RXCUI 1022017 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 63247009 NDFRT
SNOMEDID D4-00301 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q87.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q87.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E83.52 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q99.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E83.52 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q99.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PKy4. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-00301 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T056590 MSH
TERMUI T056591 MSH
TERMUI T369868 MSH
TERMUI T369869 MSH
TERMUI T812078 MSH
TERMUI T842688 MSH
TERMUI T842690 MSH
TERMUI T842692 MSH
TH GHR (2014) MSH
TH NLM (1996) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0175702

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