53974002: Kniest dysplasia (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\dysplasie de Kniest (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie de Kniest (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\dysplasie de Kniest (trouble)
\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\dysplasie de Kniest (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\dysplasie de Kniest (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\dysplasie de Kniest (trouble)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie de Kniest (trouble)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\dysplasie de Kniest (trouble)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\dysplasie de Kniest (trouble)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie de Kniest (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie de Kniest (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\dysplasie de Kniest (trouble)
\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\dysplasie de Kniest (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\dysplasie de Kniest (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\dysplasie de Kniest (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie de Kniest (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\dysplasie de Kniest (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\dysplasie de Kniest (trouble)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\dysplasie de Kniest (trouble)
\Disease\trouble du développement\Developmental hereditary disorder\dysplasie de Kniest (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie de Kniest (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\dysplasie de Kniest (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\dysplasie de Kniest (trouble)

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
dysplasie de Kniest (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
dysplasie de Kniest (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
dysplasie de Kniest (trouble)	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
dysplasie de Kniest (trouble)	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
dysplasie de Kniest (trouble)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
dysplasie de Kniest (trouble)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
dysplasie de Kniest (trouble)	est un(e) (attribut)	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
dysplasie de Kniest (trouble)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
dysplasie de Kniest (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
dysplasie de Kniest (trouble)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
dysplasie de Kniest (trouble)	est un(e) (attribut)	Kniest-Stickler dysplasia group	false	Inferred relationship	Some
dysplasie de Kniest (trouble)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
dysplasie de Kniest (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie de Kniest (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
dysplasie de Kniest (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
dysplasie de Kniest (trouble)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
dysplasie de Kniest (trouble)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
dysplasie de Kniest (trouble)	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
dysplasie de Kniest (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
dysplasie de Kniest (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dyssegmental dysplasia with glaucoma syndrome (disorder)	est un(e) (attribut)	False	dysplasie de Kniest (trouble)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
440551000241111	dysplasie de Kniest (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
792153011	Kniest dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
89716016	Kniest dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
89717013	Kniest syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
89718015	Kniest chondrodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
89719011	Swiss cheese cartilage dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
937841000172117	dysplasie de Kniest	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)