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725411000: maladie de Scheuermann familiale (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
3442368017 Familial Scheuermann disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3442369013 Familial Scheuermann disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3442370014 Familial Scheuermann juvenile kyphosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3442371013 Familial spinal osteochondrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
761041000241114 maladie de Scheuermann familiale (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
890691000172112 maladie de Scheuermann familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
954751000172118 cyphose juvénile de Scheuermann familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3442372018 A kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disc-space narrowing and vertebral wedging. The disease is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls. 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
Familial Scheuermann disease (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Familial Scheuermann disease (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Familial Scheuermann disease (disorder) est un(e) (attribut) ostéochondrite juvénile de la colonne vertébrale (trouble) true Inferred relationship Some
Familial Scheuermann disease (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Familial Scheuermann disease (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Familial Scheuermann disease (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Familial Scheuermann disease (disorder) survenue (attribut) adolescence true Inferred relationship Some 1
Familial Scheuermann disease (disorder) localisation d'une constatation (attribut) Vertebral epiphysis 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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