715568002: Gnathodiaphyseal dysplasia syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303045010 Gnathodiaphyseal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303046011 Gnathodiaphyseal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303047019 Gnathodiaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303048012 A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission. 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
Gnathodiaphyseal dysplasia syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	localisation d'une constatation (attribut)	Cartilage structure (body structure)	true	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Disorganised development of cartilaginous and fibrous components of the skeleton	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Gnathodiaphyseal dysplasia syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Gnathodiaphyseal dysplasia syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303045010	Gnathodiaphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303046011	Gnathodiaphyseal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303047019	Gnathodiaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303048012	A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core