773304004: dysplasie spondylo-métaphysaire type Golden (trouble)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\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

771041000241119 dysplasie spondylo-métaphysaire type Golden (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

885661000172110 dysplasie spondylo-métaphysaire type Golden fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

957701000172111 dysplasie spondylo-métaphysaire liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylometaphyseal dysplasia Golden type (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	est un(e) (attribut)	Spondyloepimetaphyseal disorder	false	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	est un(e) (attribut)	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
771041000241119	dysplasie spondylo-métaphysaire type Golden (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
885661000172110	dysplasie spondylo-métaphysaire type Golden	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
957701000172111	dysplasie spondylo-métaphysaire liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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