1258972007: Baraitser Winter cerebrofrontofacial syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior 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\Finding of intellectual ability\Intellectual disability\Baraitser Winter cerebrofrontofacial syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Baraitser Winter cerebrofrontofacial syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5155231018 Baraitser Winter cerebrofrontofacial syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

5155232013 Baraitser Winter cerebrofrontofacial syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5155231018	Baraitser Winter cerebrofrontofacial syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
5155232013	Baraitser Winter cerebrofrontofacial syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module