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784006008: Spondylometaphyseal dysplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3760993019 Spondylometaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760994013 Spondylometaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3760999015 A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3761000016 A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localisation and severity of involvement of the affected metaphyses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


11 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondylometaphyseal dysplasia morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Spondylometaphyseal dysplasia est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
Spondylometaphyseal dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spondylometaphyseal dysplasia est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spondylometaphyseal dysplasia localisation d'une constatation (attribut) Skeletal system structure true Inferred relationship Some 1
Spondylometaphyseal dysplasia survenue (attribut) congénital true Inferred relationship Some 1
Spondylometaphyseal dysplasia est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Hall Riggs syndrome (disorder) est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia Golden type (disorder) est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia A4 type (disorder) est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia - Sutcliffe type est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) est un(e) (attribut) True Spondylometaphyseal dysplasia Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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