449821007: syndrome branchio-oculo-facial (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Branchiooculofacial syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Branchiooculofacial syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Branchiooculofacial syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Branchiooculofacial syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Branchiooculofacial syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Branchiooculofacial syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Branchiooculofacial syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\Branchiooculofacial syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2012. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Branchiooculofacial syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Branchiooculofacial syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Branchiooculofacial syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Branchiooculofacial syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Branchiooculofacial syndrome	est un(e) (attribut)	anomalie congénitale des os du crâne et du visage	true	Inferred relationship	Some
Branchiooculofacial syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Branchiooculofacial syndrome	localisation d'une constatation (attribut)	crâne (structure corporelle)	false	Inferred relationship	Some	2
Branchiooculofacial syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Branchiooculofacial syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Branchiooculofacial syndrome	localisation d'une constatation (attribut)	structure osseuse de la tête (structure corporelle)	true	Inferred relationship	Some	1
Branchiooculofacial syndrome	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Branchiooculofacial syndrome	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Branchiooculofacial syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microphthalmos due to branchio-oculo-facial syndrome	Due to	True	Branchiooculofacial syndrome	Inferred relationship	Some	2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2912938018	Branchiooculofacial syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2913172017	Branchiooculofacial syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
723481000241117	syndrome branchio-oculo-facial (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
896021000172116	syndrome branchio-oculo-facial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
955231000172117	BOFS - branchio-oculo-facial syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)