715568002: Gnathodiaphyseal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Gnathodiaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Gnathodiaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Gnathodiaphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Gnathodiaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Gnathodiaphyseal dysplasia
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Gnathodiaphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Gnathodiaphyseal dysplasia

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3303046011 Gnathodiaphyseal dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3303047019 Gnathodiaphyseal dysplasia en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Strength reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303045010	Gnathodiaphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303046011	Gnathodiaphyseal dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3303047019	Gnathodiaphyseal dysplasia	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core