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 |
3332324016 | Thickened earlobe with conductive deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332325015 | Thickened earlobe with conductive deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332326019 | Escher Hirt syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402964014 | Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402965010 | Thickened earlobes-conductive deafness syndrome is characterised by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Congenital micrognathism | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Microtia | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Conductive hearing loss | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Congenital anomaly of ear with impairment of hearing | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 5 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Finding site | External ear structure | false | Inferred relationship | Some | 5 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 6 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Finding site | Bone structure of mandible | false | Inferred relationship | Some | 6 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Finding site | Bone structure of mandible | true | Inferred relationship | Some | 1 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Finding site | External ear structure | true | Inferred relationship | Some | 2 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
Thickened earlobe with conductive deafness syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Thickened earlobe with conductive deafness syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)