716742001: Multiple osteochondroma of long bone (disorder)

SNOMED CT Concept\Clinical finding\...

\Mass of body structure\Mass of body region\Multiple osteochondroma
\Mass of body structure\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma

\Musculoskeletal finding\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma
\Musculoskeletal finding\Bone finding\Disorder of bone\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma
\Musculoskeletal finding\Musculoskeletal disorder\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Multiple osteochondroma
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multiple osteochondroma
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multiple osteochondroma
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Osteochondroma\Osteochondroma of bone\Multiple osteochondroma
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multiple osteochondroma
\Disease\Disorder of body system\Musculoskeletal disorder\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Multiple osteochondroma
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Neoplasm of skeletal system\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Neoplasm of bone\Benign neoplasm of bone\Osteochondroma of bone\Multiple osteochondroma

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

Descriptions:

Id Description Lang Type Status Case? Module

3307387017 Multiple osteochondroma of long bone (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3307388010 Multiple osteochondroma of long bone en Synonym Active Case insensitive SNOMED CT core

3307389019 Multiple osteochondroma en Synonym Active Case insensitive SNOMED CT core

3307391010 Bessel Hagen disease en Synonym Active Case sensitive SNOMED CT core

3307390011 The development of two or more cartilage capped bony outgrowths of the long bones.Develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. The number may vary significantly within and between families. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The most important complication is malignant transformation towards secondary peripheral chondrosarcoma. Germline mutations in EXT1 or EXT2, are found in almost 90% of patients. An autosomal dominant disorder. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple osteochondroma	Is a	Mass of body region	true	Inferred relationship	Some
Multiple osteochondroma	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Multiple osteochondroma	Is a	Osteochondroma of bone	true	Inferred relationship	Some
Multiple osteochondroma	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Multiple osteochondroma	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Multiple osteochondroma	Associated morphology	Osteochondroma	true	Inferred relationship	Some	1
Multiple osteochondroma	Finding site	Structure of long bone	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3307387017	Multiple osteochondroma of long bone (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307388010	Multiple osteochondroma of long bone	en	Synonym	Active	Case insensitive	SNOMED CT core
3307389019	Multiple osteochondroma	en	Synonym	Active	Case insensitive	SNOMED CT core
3307391010	Bessel Hagen disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3307390011	The development of two or more cartilage capped bony outgrowths of the long bones.Develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. The number may vary significantly within and between families. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The most important complication is malignant transformation towards secondary peripheral chondrosarcoma. Germline mutations in EXT1 or EXT2, are found in almost 90% of patients. An autosomal dominant disorder.	en	Definition	Active	Case sensitive	SNOMED CT core