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725904009: Genochondromatosis type 2 (disorder)


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
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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Genochondromatosis type 2 (disorder) Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Genochondromatosis type 2 (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Genochondromatosis type 2 (disorder) Is a Genochondromatosis (disorder) true Inferred relationship Some
Genochondromatosis type 2 (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Genochondromatosis type 2 (disorder) Occurrence Congenital true Inferred relationship Some 2
Genochondromatosis type 2 (disorder) Finding site Bone structure false Inferred relationship Some 2
Genochondromatosis type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Genochondromatosis type 2 (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Genochondromatosis type 2 (disorder) Occurrence Congenital true Inferred relationship Some 1
Genochondromatosis type 2 (disorder) Finding site Bone structure true Inferred relationship Some 1
Genochondromatosis type 2 (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Genochondromatosis type 2 (disorder) Finding site Cartilage structure (body structure) true Inferred relationship Some 2
Genochondromatosis type 2 (disorder) Is a Osteochondropathy true Inferred relationship Some
Genochondromatosis type 2 (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Genochondromatosis type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Genochondromatosis type 2 (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Genochondromatosis type 2 (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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