Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3638186014 | Jackson Barr syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3638187017 | Conductive deafness, ptosis, skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638188010 | Conductive deafness, ptosis, skeletal anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638189019 | A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4183341000052110 | syndrom med konduktiv dövhet, ptos och skelettanomalier | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Skin lesion | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 2 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Finding site | Ectoderm structure | false | Inferred relationship | Some | 1 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 3 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Finding site | Tooth structure | false | Inferred relationship | Some | 4 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Oral lesion | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Is a | Malformation of teeth (disorder) | true | Inferred relationship | Some | ||
Conductive deafness, ptosis, skeletal anomalies syndrome | Finding site | Dentition | true | Inferred relationship | Some | 4 | |
Conductive deafness, ptosis, skeletal anomalies syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets