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725411000: Familial Scheuermann disease (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
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
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
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
929921000195116 malattia di Scheuermann it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929931000195119 morbo di Scheuermann it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890691000172112 maladie de Scheuermann familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954751000172118 cyphose juvénile de Scheuermann familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890691000172112 maladie de Scheuermann familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954751000172118 cyphose juvénile de Scheuermann familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929921000195116 malattia di Scheuermann it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929931000195119 morbo di Scheuermann it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409321001000110 Scheuermann-Krankheit, familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial Scheuermann disease (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial Scheuermann disease (disorder) Is a Juvenile osteochondrosis of spine true Inferred relationship Existential restriction modifier (core metadata concept)
Familial Scheuermann disease (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Familial Scheuermann disease (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Familial Scheuermann disease (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial Scheuermann disease (disorder) Occurrence Adolescence (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial Scheuermann disease (disorder) Finding site Vertebral epiphysis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial Scheuermann disease (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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