Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3757278012 | Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3757279016 | Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3757280018 | Atypical dentin dysplasia due to SMOC2 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3757281019 | Dentin dysplasia type 1 with microdontia and shape anomalies | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3757282014 | A rare genetic dentin dysplasia disease with characteristics of extreme microdontia, oligodontia and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp) enamel hypoplasia and anterior open bite may also be associated. Caused by homozygous mutation in the SMOC2 gene on chromosome 6q27. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Finding site | Dentin structure | true | Inferred relationship | Some | 1 | |
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Is a | Dentin dysplasia | true | Inferred relationship | Some | ||
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Is a | Developmental hereditary disorder | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets