Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3318433018 | Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318434012 | Trichodysplasia with amelogenesis imperfecta syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402269010 | A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402270011 | A rare ectodermal dysplasia syndrome characterised by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Is a | Amelogenesis imperfecta (disorder) | true | Inferred relationship | Some | ||
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Finding site | Structure of hard tissue of tooth | false | Inferred relationship | Some | 3 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 4 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 2 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Finding site | Structure of hard tissue of tooth | false | Inferred relationship | Some | 1 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Finding site | Enamel structure | true | Inferred relationship | Some | 2 | |
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)