725411000: Familial Scheuermann disease (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Finding of vertebra\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Vertebral column finding\Finding of vertebra\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Bone finding\Finding of vertebra\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial Scheuermann disease (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial Scheuermann disease (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial Scheuermann disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial Scheuermann disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Spinal epiphysiopathy (disorder)\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Degeneration of spine\Juvenile osteochondrosis of spine\Familial Scheuermann disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3442368017 Familial Scheuermann disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3442369013 Familial Scheuermann disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3442370014 Familial Scheuermann juvenile kyphosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3442371013 Familial spinal osteochondrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3442372018 A kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disc-space narrowing and vertebral wedging. The disease is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3993291000052111 familjär Scheuermanns sjukdom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial Scheuermann disease (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial Scheuermann disease (disorder)	Is a	Juvenile osteochondrosis of spine	true	Inferred relationship	Some
Familial Scheuermann disease (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Familial Scheuermann disease (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial Scheuermann disease (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	1
Familial Scheuermann disease (disorder)	Occurrence	Adolescence	true	Inferred relationship	Some	1
Familial Scheuermann disease (disorder)	Finding site	Vertebral epiphysis	true	Inferred relationship	Some	1
Familial Scheuermann disease (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1

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
3442368017	Familial Scheuermann disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3442369013	Familial Scheuermann disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3442370014	Familial Scheuermann juvenile kyphosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3442371013	Familial spinal osteochondrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442372018	A kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disc-space narrowing and vertebral wedging. The disease is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993291000052111	familjär Scheuermanns sjukdom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)