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715568002: 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
5400972016 Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by 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 associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400973014 Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterised by 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 associated with generalised osteopenia. GD follows an autosomal dominant mode of transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303045010 Gnathodiaphyseal dysplasia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5400972016 Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by 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 associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400973014 Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterised by 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 associated with generalised osteopenia. GD follows an autosomal dominant mode of transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452531001000118 Dysplasie, gnatho-diaphysäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475621000241112 syndrome de dysplasie gnathodiaphysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475621000241112 syndrome de dysplasie gnathodiaphysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452531001000118 Dysplasie, gnatho-diaphysäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Gnathodiaphyseal dysplasia Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Gnathodiaphyseal dysplasia Is a Disorganised development of cartilaginous and fibrous components of the skeleton true Inferred relationship Existential restriction modifier (core metadata concept)
Gnathodiaphyseal dysplasia Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Gnathodiaphyseal dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Gnathodiaphyseal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Gnathodiaphyseal dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Gnathodiaphyseal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Gnathodiaphyseal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Gnathodiaphyseal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Gnathodiaphyseal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Gnathodiaphyseal dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Gnathodiaphyseal dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Gnathodiaphyseal dysplasia Finding site Cartilage structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Gnathodiaphyseal dysplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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