254151006: autosomaal recessieve multicentrische osteolyse (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Winchester syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Winchester syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Winchester 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\Winchester syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Winchester syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Winchester syndrome

\Disease\Genetic disease\Winchester syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Winchester syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Winchester syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Winchester 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\Winchester syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Winchester syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Winchester syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Winchester syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Winchester syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Winchester syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Winchester syndrome	Is a	Idiopathic osteolyses	false	Inferred relationship	Some
Winchester syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Winchester syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Winchester syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Winchester syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Winchester syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Winchester syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Winchester syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Winchester syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Winchester syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Winchester syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Winchester syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Winchester syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Winchester syndrome	Is a	Skeletal dysplasia	false	Inferred relationship	Some
Winchester syndrome	Associated morphology	Osteolysis (morphologic abnormality)	false	Inferred relationship	Some	2
Winchester syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Winchester syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Winchester syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Winchester syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Winchester syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Winchester syndrome	Is a	Osteolysis	true	Inferred relationship	Some
Winchester syndrome	Associated morphology	Osteolysis (morphologic abnormality)	true	Inferred relationship	Some	1
Winchester syndrome	Finding site	Face structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378329017	Winchester syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
645002018	Winchester syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9467591000146118	autosomaal recessieve multicentrische osteolyse	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9467601000146111	autosomaal recessieve multicentrische osteolyse (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9919711000146111	Winchester-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)