716232002: Autosomal dominant spondylocostal dysostosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of trunk structure\Finding of upper trunk\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
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Finding of trunk structure\Disorder of trunk\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
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Finding of trunk structure\Disorder of trunk\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
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant spondylocostal dysostosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis
\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
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of trunk\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
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of trunk\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
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis
\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
\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
\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis
\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
\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
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis

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

Descriptions:

Id Description Lang Type Status Case? Module

3305158011 Autosomal dominant spondylocostal dysostosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3305159015 Autosomal dominant spondylocostal dysostosis en Synonym Active Entire term case insensitive SNOMED CT core module

3305160013 Autosomal dominant spondylocostal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant spondylocostal dysostosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant spondylocostal dysostosis	Is a	Congenital anomaly of spine	true	Inferred relationship	Existential restriction modifier
Autosomal dominant spondylocostal dysostosis	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Autosomal dominant spondylocostal dysostosis	Is a	Congenital anomaly of rib	true	Inferred relationship	Existential restriction modifier
Autosomal dominant spondylocostal dysostosis	Is a	Finding of vertebra	false	Inferred relationship	Existential restriction modifier
Autosomal dominant spondylocostal dysostosis	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Autosomal dominant spondylocostal dysostosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Autosomal dominant spondylocostal dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant spondylocostal dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant spondylocostal dysostosis	Finding site	Bone structure of rib	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant spondylocostal dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant spondylocostal dysostosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant spondylocostal dysostosis	Finding site	Bone structure of spine	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant spondylocostal dysostosis	Finding site	Bone structure of spine	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant spondylocostal dysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant spondylocostal dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant spondylocostal dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant spondylocostal dysostosis	Finding site	Bone structure of rib	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant spondylocostal dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant spondylocostal dysostosis	Is a	Disorder of vertebral column	true	Inferred relationship	Existential restriction modifier
Autosomal dominant spondylocostal dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant spondylocostal dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant spondylocostal dysostosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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	SNOMED CT core module
3305159015	Autosomal dominant spondylocostal dysostosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3305160013	Autosomal dominant spondylocostal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module