716232002: Autosomal dominant spondylocostal dysostosis (disorder)

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

\Finding of back (finding)\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)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Autosomal dominant spondylocostal dysostosis (disorder)
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Autosomal dominant spondylocostal dysostosis (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Autosomal dominant spondylocostal dysostosis (disorder)
\Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)

\Finding of trunk structure\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)
\Finding of trunk structure\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)
\Finding of trunk structure\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)
\Finding of trunk structure\Disorder of trunk (disorder)\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)
\Finding of trunk structure\Disorder of trunk (disorder)\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)
\Finding of trunk structure\Disorder of trunk (disorder)\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)
\Finding of trunk structure\Disorder of trunk (disorder)\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\Disorder of vertebral column (disorder)\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\Bone finding\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\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\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 anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Genetic disease\Hereditary disease\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\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 anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\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\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Developmental disorder\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\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis (disorder)
\Disease\Developmental disorder\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)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	Dysostosis	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	Congenital anomaly of rib	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	Finding of vertebra	false	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Finding site	Bone structure of rib	false	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Autosomal dominant spondylocostal dysostosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant spondylocostal dysostosis (disorder)	Finding site	Bone structure of spine	false	Inferred relationship	Some	3
Autosomal dominant spondylocostal dysostosis (disorder)	Finding site	Bone structure of spine	true	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Occurrence	Congenital	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)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant spondylocostal dysostosis (disorder)	Finding site	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)	Is a	Disorder of vertebral column (disorder)	true	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	Developmental hereditary disorder	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
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
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
880801000172115	dysplasie spondylo-costale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
912191000172113	dysostose spondylo-costale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
884811000172114	autosomaal dominante spondylocostale dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
913701000172110	autosomaal dominante spondylocostale dysostose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)