715899006: Familial osteochondritis dissecans (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Bone injury\Avascular necrosis of bone (disorder)\Osteochondritis dissecans (disorder)\Familial osteochondritis dissecans (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial osteochondritis dissecans (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Avascular necrosis of bone (disorder)\Osteochondritis dissecans (disorder)\Familial osteochondritis dissecans (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Avascular necrosis of bone (disorder)\Osteochondritis dissecans (disorder)\Familial osteochondritis dissecans (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial osteochondritis dissecans (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial osteochondritis dissecans (disorder)
\Disease\Traumatic or non-traumatic injury (disorder)\Necrosis of anatomical site\Avascular necrosis of bone (disorder)\Osteochondritis dissecans (disorder)\Familial osteochondritis dissecans (disorder)
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Avascular necrosis of bone (disorder)\Osteochondritis dissecans (disorder)\Familial osteochondritis dissecans (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial osteochondritis dissecans (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Familial osteochondritis dissecans (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Avascular necrosis of bone (disorder)\Osteochondritis dissecans (disorder)\Familial osteochondritis dissecans (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Avascular necrosis of bone (disorder)\Osteochondritis dissecans (disorder)\Familial osteochondritis dissecans (disorder)
\Disease\Familial disease\Familial osteochondritis dissecans (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304074011 Familial osteochondritis dissecans (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304075012 Familial osteochondritis dissecans en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304076013 Osteochondritis dissecans and short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5401154016 Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401155015 Familial osteochondritis dissecans is a rare genetic skeletal disorder characterised clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial osteochondritis dissecans (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial osteochondritis dissecans (disorder)	Is a	Osteochondritis dissecans (disorder)	true	Inferred relationship	Some
Familial osteochondritis dissecans (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Familial osteochondritis dissecans (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial osteochondritis dissecans (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Familial osteochondritis dissecans (disorder)	Associated morphology	Avascular necrosis	true	Inferred relationship	Some	1
Familial osteochondritis dissecans (disorder)	Is a	Familial disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304074011	Familial osteochondritis dissecans (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304075012	Familial osteochondritis dissecans	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304076013	Osteochondritis dissecans and short stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401154016	Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401155015	Familial osteochondritis dissecans is a rare genetic skeletal disorder characterised clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core