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 |
3323406018 | Deafness, enamel hypoplasia, nail defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323407010 | Deafness, enamel hypoplasia, nail defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323408017 | Heimler syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402589012 | A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402590015 | A rare genetic disease characterised by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leuconychia and presence of transverse ridges). Association with macular dystrophy has also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Enamel hypoplasia | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Congenital anomaly of nail | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Ectodermal dysplasia with tooth-nail defects | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 5 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 8 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Nail structure | false | Inferred relationship | Some | 8 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 10 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 10 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 7 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 9 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Enamel structure | false | Inferred relationship | Some | 9 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Enamel structure | false | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 2 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 7 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Tooth structure | false | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Is a | Peroxisome biogenesis disorder | true | Inferred relationship | Some | ||
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 5 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Finding site | Enamel structure | true | Inferred relationship | Some | 6 | |
Deafness, enamel hypoplasia, nail defect syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)