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773304004: Spondylometaphyseal dysplasia Golden type (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3723053017 Spondylometaphyseal dysplasia Golden type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723054011 X-linked spondylometaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723055012 Spondylometaphyseal dysplasia Golden type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723056013 A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723053017 Spondylometaphyseal dysplasia Golden type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723054011 X-linked spondylometaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723055012 Spondylometaphyseal dysplasia Golden type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723056013 A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447761001000119 Dysplasie, spondylometaphysäre, Typ Golden de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
885661000172110 dysplasie spondylo-métaphysaire type Golden fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957701000172111 dysplasie spondylo-métaphysaire liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
885661000172110 dysplasie spondylo-métaphysaire type Golden fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957701000172111 dysplasie spondylo-métaphysaire liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447761001000119 Dysplasie, spondylometaphysäre, Typ Golden 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
Spondylometaphyseal dysplasia Golden type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Golden type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Golden type (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Golden type (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Golden type (disorder) Is a Spondyloepimetaphyseal disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Golden type (disorder) Is a Spondylometaphyseal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Golden type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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