715568002: Gnathodiaphyseal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganized development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganized 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

3875081000052116 gnatodiafyseal dysplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gnathodiaphyseal dysplasia syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	Is a	Disorganized development of cartilaginous and fibrous components of the skeleton	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Gnathodiaphyseal dysplasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Gnathodiaphyseal dysplasia syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Gnathodiaphyseal dysplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	Finding site	Cartilage structure (body structure)	true	Inferred relationship	Some	1
Gnathodiaphyseal dysplasia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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
3875081000052116	gnatodiafyseal dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)