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716742001: Multiple osteochondroma of long bone (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3307388010 Multiple osteochondroma of long bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307389019 Multiple osteochondroma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307391010 Bessel Hagen disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple osteochondroma of long bone (disorder) est un(e) (attribut) masse d'une région corporelle true Inferred relationship Some
Multiple osteochondroma of long bone (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Multiple osteochondroma of long bone (disorder) est un(e) (attribut) Osteochondroma of bone true Inferred relationship Some
Multiple osteochondroma of long bone (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Multiple osteochondroma of long bone (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Multiple osteochondroma of long bone (disorder) morphologie associée (attribut) Osteochondroma (morphologic abnormality) true Inferred relationship Some 1
Multiple osteochondroma of long bone (disorder) localisation d'une constatation (attribut) Structure of long bone 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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