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 |
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 |
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 |
910901000172115 | syndrome de trichodysplasie-amélogenèse imparfaite | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3444801001000116 | Trichodysplasie - Amelogenesis imperfecta | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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. | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
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. | Is a | Amelogenesis imperfecta | true | Inferred relationship | Some | ||
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. | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
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. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
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. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
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. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
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. | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
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. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
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. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
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. | Finding site | Structure of hard tissue of tooth | false | Inferred relationship | Some | 3 | |
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. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
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. | Finding site | Ectoderm structure | false | Inferred relationship | Some | 4 | |
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. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 5 | |
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. | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
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. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
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. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
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. | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
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. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
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. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
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. | Finding site | Ectoderm structure | false | Inferred relationship | Some | 2 | |
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. | Finding site | Structure of hard tissue of tooth | false | Inferred relationship | Some | 1 | |
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. | Associated morphology | Morphologically abnormal structure | false | Inferred relationship | Some | 1 | |
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. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
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. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
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. | Finding site | Enamel structure | true | Inferred relationship | Some | 2 | |
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. | 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)