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SNOMED CT
Id | http://purl.bioontology.org/ontology/SNOMEDCT/1258972007
http://purl.bioontology.org/ontology/SNOMEDCT/1258972007
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Preferred Name | Baraitser Winter cerebrofrontofacial syndrome |
Definitions |
Baraitser-Winter syndrome (BWS) is a malformation syndrome with characteristics of facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos (FA) syndrome) corresponds to the appearance of BWS in elderly patients. BWS and FA were initially considered separate entities. BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in one of the 2 genes coding for ubiquitously expressed actins: ACTB, located to 7p22-p12 (BRWS1) and ACTG1 on 17q25.3 (BRWS2). All mutations are missense and probably act by a gain of function mechanism, as deletions of the same genes do not result in BWS phenotype. All molecularly confirmed cases are sporadic, with, in theory, an autosomal dominant transmission, but effective transmission has never been reported.
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Synonyms |
Baraitser Winter cerebrofrontofacial syndrome (disorder)
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Baraitser-Winter syndrome (BWS) is a malformation syndrome with characteristics of facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos (FA) syndrome) corresponds to the appearance of BWS in elderly patients. BWS and FA were initially considered separate entities. BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in one of the 2 genes coding for ubiquitously expressed actins: ACTB, located to 7p22-p12 (BRWS1) and ACTG1 on 17q25.3 (BRWS2). All mutations are missense and probably act by a gain of function mechanism, as deletions of the same genes do not result in BWS phenotype. All molecularly confirmed cases are sporadic, with, in theory, an autosomal dominant transmission, but effective transmission has never been reported. |
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altLabel | Baraitser Winter cerebrofrontofacial syndrome (disorder)
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prefLabel | Baraitser Winter cerebrofrontofacial syndrome
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Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID | 900000000000017005
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notation | 1258972007
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Effective time | 20221130
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Active | 1
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Has finding site | |
interprets | |
Has pathological process | |
subClassOf | |
Semantic type UMLS property | |
Has interpretation | |
type | |
Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~Q87.0
6011000124106~MAPGROUP~1
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
900000000000497000~MAPTARGET~XVJYT
447562003~MAPTARGET~Q87.0
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DEFINITION STATUS ID | 900000000000074008
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tui | T047
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CTV3ID | XVJYT
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Occurs in | |
cui | C5680770
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Has associated morphology |
Delete | Subject | Author | Type | Created |
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Notes
Subject | Author | Type | Class | Created |
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ICD-10-CM 2018 | Certified+Professional+Coder+ | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/40068008 | 2018-06-08 |
Surgical specialty should be surgury? | jimmccusker | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/394732004 | 2012-09-26 |
SNOMEDCT | kotharu | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/123037004 | 2012-04-17 |
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