254059005: dysplasie van Kniest-Stickler (aandoening)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Kniest-Stickler dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kniest-Stickler dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Kniest-Stickler dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Kniest-Stickler dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kniest-Stickler dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Kniest-Stickler dysplasia
\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\Kniest-Stickler dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kniest-Stickler dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Kniest-Stickler dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kniest-Stickler dysplasia

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
Kniest-Stickler dysplasia	Is a	chondrodysplasie met kenmerkend fenotype (aandoening)	false	Inferred relationship	Some
Kniest-Stickler dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Kniest-Stickler dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Kniest-Stickler dysplasia	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Kniest-Stickler dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Kniest-Stickler dysplasia	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Kniest-Stickler dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Kniest-Stickler dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Kniest-Stickler dysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Kniest-Stickler dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

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
378206010	Kniest-Stickler dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644899013	Kniest-Stickler dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6666371000146119	dysplasie van Kniest-Stickler	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6666381000146117	dysplasie van Kniest-Stickler (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6666391000146115	Kniest-Stickler-dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)