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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\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 anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Autosomal dominant spondylocostal dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Autosomal dominant spondylocostal dysostosis

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305158011 Autosomal dominant spondylocostal dysostosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3305159015 Autosomal dominant spondylocostal dysostosis en Synonym Active Case insensitive SNOMED CT core

3305160013 Autosomal dominant spondylocostal dysplasia en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305158011	Autosomal dominant spondylocostal dysostosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305159015	Autosomal dominant spondylocostal dysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3305160013	Autosomal dominant spondylocostal dysplasia	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core