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725904009: génochondromatose type 2 (trouble)


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
3446272018 Genochondromatosis type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446273011 Genochondromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
761791000241117 génochondromatose type 2 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
988671000172119 génochondromatose type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3446274017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3446275016 A rare genetic bone development disorder characterised by normal clavicles and symmetrical generalised 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. 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
Genochondromatosis type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Genochondromatosis type 2 (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Genochondromatosis type 2 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Genochondromatosis type 2 (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Genochondromatosis type 2 (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Genochondromatosis type 2 (disorder) localisation d'une constatation (attribut) Cartilage structure (body structure) true Inferred relationship Some 2
Genochondromatosis type 2 (disorder) est un(e) (attribut) Osteochondropathy true Inferred relationship Some
Genochondromatosis type 2 (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Genochondromatosis type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Genochondromatosis type 2 (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) Connective tissue hereditary disorder true Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) Genochondromatosis (disorder) true Inferred relationship Some
Genochondromatosis type 2 (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Genochondromatosis type 2 (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Genochondromatosis type 2 (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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