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389264005: Genochondromatosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1463443015 Genochondromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1483301017 Genochondromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5246901000241118 génochondromatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427651001000114 Genochondromatose Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genochondromatosis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Genochondromatosis (disorder) Is a Disorganised development of cartilaginous and fibrous components of the skeleton true Inferred relationship Some
Genochondromatosis (disorder) Occurrence Congenital false Inferred relationship Some
Genochondromatosis (disorder) Finding site Bone structure false Inferred relationship Some 1
Genochondromatosis (disorder) Finding site Bone structure false Inferred relationship Some 1
Genochondromatosis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Genochondromatosis (disorder) Occurrence Congenital false Inferred relationship Some 2
Genochondromatosis (disorder) Finding site Bone structure false Inferred relationship Some 2
Genochondromatosis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Genochondromatosis (disorder) Occurrence Congenital true Inferred relationship Some 1
Genochondromatosis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Genochondromatosis (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Genochondromatosis (disorder) Finding site Cartilage structure (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Is a True Genochondromatosis (disorder) Inferred relationship Some
A rare genetic bone development disorder characterized by involvement of the clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Is a True Genochondromatosis (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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