449821007: branchio-oculofaciaal syndroom (aandoening)

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

\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Branchiooculofacial syndrome
\Disease\Disorder of foetus and/or newborn\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\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\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Branchiooculofacial syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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
6254241000146116	branchio-oculofaciaal syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6254251000146118	branchio-oculofaciaal syndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016341000146118	BOFS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)