715568002: Gnathodiaphyseal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3303046011 Gnathodiaphyseal dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3303047019 Gnathodiaphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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
3303045010	Gnathodiaphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3303046011	Gnathodiaphyseal dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3303047019	Gnathodiaphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module