Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3305046014 | Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305047017 | Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305048010 | Platyspondyly amelogenesis imperfecta | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305049019 | Verloes Bourguignon syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3305050019 | Brachyolmia and amelogenesis imperfecta syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305051015 | An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 3 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | localisation d'une constatation (attribut) | Structure of hard tissue of tooth | false | Inferred relationship | Some | 3 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal structure of spine | false | Inferred relationship | Some | 2 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | localisation d'une constatation (attribut) | Enamel structure | true | Inferred relationship | Some | 4 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | morphologie associée (attribut) | dysplasie | false | Inferred relationship | Some | 3 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | localisation d'une constatation (attribut) | Skeletal system structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 3 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | est un(e) (attribut) | Amelogenesis imperfecta | true | Inferred relationship | Some | ||
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | est un(e) (attribut) | Brachyolmia | true | Inferred relationship | Some | ||
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | localisation d'une constatation (attribut) | Musculoskeletal structure of spine | false | Inferred relationship | Some | ||
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 4 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | localisation d'une constatation (attribut) | Structure of hard tissue of tooth | false | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)