1258972007: Baraitser Winter cerebrofrontofacial syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Baraitser Winter cerebrofrontofacial 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\Baraitser Winter cerebrofrontofacial syndrome

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Baraitser Winter cerebrofrontofacial syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Baraitser Winter cerebrofrontofacial syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Baraitser Winter cerebrofrontofacial syndrome

\Disease\Genetic disease\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome

Status: current, Primitive. Date: 30-Nov 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5155231018 Baraitser Winter cerebrofrontofacial syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5155232013 Baraitser Winter cerebrofrontofacial syndrome en Synonym Active Case sensitive SNOMED CT core

5155233015 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Baraitser Winter cerebrofrontofacial syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Baraitser Winter cerebrofrontofacial syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Baraitser Winter cerebrofrontofacial syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Baraitser Winter cerebrofrontofacial syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	2
Baraitser Winter cerebrofrontofacial syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Baraitser Winter cerebrofrontofacial syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	3
Baraitser Winter cerebrofrontofacial syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Baraitser Winter cerebrofrontofacial syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Baraitser Winter cerebrofrontofacial syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Baraitser Winter cerebrofrontofacial syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Baraitser Winter cerebrofrontofacial syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5155231018	Baraitser Winter cerebrofrontofacial syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5155232013	Baraitser Winter cerebrofrontofacial syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5155233015	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.	en	Definition	Active	Case sensitive	SNOMED CT core