716232002: dysostose spondylo-costale autosomique dominante (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)

\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)

\Musculoskeletal finding\Vertebral column finding\affection du rachis\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\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\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\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\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\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\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\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\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant spondylocostal dysostosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Autosomal dominant spondylocostal dysostosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant spondylocostal dysostosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant spondylocostal dysostosis (disorder)	localisation d'une constatation (attribut)	Bone structure of rib	true	Inferred relationship	Some	1
Autosomal dominant spondylocostal dysostosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	affection du rachis	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	Congenital anomaly of spine	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	Dysostosis	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	Congenital anomaly of rib	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	résultat concernant une vertèbre	false	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	localisation d'une constatation (attribut)	Bone structure of rib	false	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Autosomal dominant spondylocostal dysostosis (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Autosomal dominant spondylocostal dysostosis (disorder)	localisation d'une constatation (attribut)	structure osseuse de la colonne vertébrale (structure corporelle)	false	Inferred relationship	Some	3
Autosomal dominant spondylocostal dysostosis (disorder)	localisation d'une constatation (attribut)	structure osseuse de la colonne vertébrale (structure corporelle)	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
3305158011	Autosomal dominant spondylocostal dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305159015	Autosomal dominant spondylocostal dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305160013	Autosomal dominant spondylocostal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
749451000241111	dysostose spondylo-costale autosomique dominante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
880801000172115	dysplasie spondylo-costale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
912191000172113	dysostose spondylo-costale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3305161012	A very rare and mild form of spondylocostal dysostosis with characteristics of vertebral and costal segmentation defects, often with a reduction in the number of ribs.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core