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 |
3318121016 | Renal dysplasia with limb defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318122011 | Renal dysplasia with limb defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318123018 | Ulbright Hodes syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3318124012 | Renal dysplasia, mesomelia, radiohumeral fusion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3318125013 | Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5096351000172110 | syndroom van dysplasie van nier en defect van extremiteit | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5096361000172112 | syndroom van Ulbright-Hodes | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5096371000172115 | syndroom van nierdysplasie en ledemaatdefecten | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5096381000172117 | Ulbright-Hodes-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
5096391000172119 | syndroom van renale dysplasie en defect van extremiteit | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Renal dysplasia with limb defect syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Renal dysplasia with limb defect syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Renal dysplasia with limb defect syndrome (disorder) | Is a | Renal dysplasia | true | Inferred relationship | Some | ||
Renal dysplasia with limb defect syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Renal dysplasia with limb defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Renal dysplasia with limb defect syndrome (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 3 | |
Renal dysplasia with limb defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Renal dysplasia with limb defect syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
Renal dysplasia with limb defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Renal dysplasia with limb defect syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 5 | |
Renal dysplasia with limb defect syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Renal dysplasia with limb defect syndrome (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | 3 | |
Renal dysplasia with limb defect syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
Renal dysplasia with limb defect syndrome (disorder) | Finding site | Limb structure | false | Inferred relationship | Some | 4 | |
Renal dysplasia with limb defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Renal dysplasia with limb defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Renal dysplasia with limb defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Renal dysplasia with limb defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Renal dysplasia with limb defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Renal dysplasia with limb defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Renal dysplasia with limb defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Renal dysplasia with limb defect syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 1 | |
Renal dysplasia with limb defect syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Renal dysplasia with limb defect syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Renal dysplasia with limb defect syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Renal dysplasia with limb defect syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets