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784006008: Spondylometaphyseal dysplasia (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3760993019 Spondylometaphyseal dysplasia en Synonym Active Case insensitive SNOMED CT core
3760994013 Spondylometaphyseal dysplasia (disorder) en Fully specified name Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


12 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondylometaphyseal dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Spondylometaphyseal dysplasia Is a Congenital skeletal dysplasia true Inferred relationship Some
Spondylometaphyseal dysplasia Pathological process Pathological developmental process true Inferred relationship Some 1
Spondylometaphyseal dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spondylometaphyseal dysplasia Finding site Skeletal system structure true Inferred relationship Some 1
Spondylometaphyseal dysplasia Occurrence Congenital true Inferred relationship Some 1
Spondylometaphyseal dysplasia Is a Developmental hereditary disorder true Inferred relationship Some

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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