449821007: Branchiooculofacial syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Branchiooculofacial syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Branchiooculofacial syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Branchiooculofacial syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Branchiooculofacial syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Branchiooculofacial syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Branchiooculofacial syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Branchiooculofacial syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome

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

Descriptions:

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

896021000172116 syndrome branchio-oculo-facial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

955231000172117 BOFS - branchio-oculo-facial syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Branchiooculofacial syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Branchiooculofacial syndrome	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Some
Branchiooculofacial syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Branchiooculofacial syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Branchiooculofacial syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Branchiooculofacial syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Branchiooculofacial syndrome	Finding site	Bone structure of head	true	Inferred relationship	Some	1
Branchiooculofacial syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Branchiooculofacial syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Branchiooculofacial syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Branchiooculofacial syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Branchiooculofacial syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Branchiooculofacial syndrome	Is a	Developmental hereditary disorder	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

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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
896021000172116	syndrome branchio-oculo-facial	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955231000172117	BOFS - branchio-oculo-facial syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module