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784006008: spondylometafysaire dysplasie (aandoening)


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
9168911000146118 spondylometafysaire dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9168921000146111 spondylometafysaire dysplasie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Skeletal dysplasia true Inferred relationship Some
Spondylometaphyseal dysplasia Pathological process (attribute) 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 (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia Is a True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Some
Hall Riggs syndrome (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia Golden type (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia A4 type (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) 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
spondylometafysaire dysplasie Czarny-Ratajczak-type Is a False Spondylometaphyseal dysplasia Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) Is a True Spondylometaphyseal dysplasia Inferred relationship Some
Regressive spondylometaphyseal dysplasia Is a True Spondylometaphyseal dysplasia Inferred relationship Some
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Is a True Spondylometaphyseal dysplasia Inferred relationship Some

This concept is not in any reference sets

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