Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3467477010 | Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3467478017 | Czeizel Losonci syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3467479013 | Split hand, urinary anomalies, spina bifida syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3467481010 | Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3467480011 | An exceedingly rare severe congenital genetic malformation disorder with characteristics of split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia and radial defects. There have been no further descriptions in the literature since 1987. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5490561000241117 | syndrome de la main fendue, uropathie obstructive, spina bifida et défaut diaphragmatique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Congenital cleft hand | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Spina bifida | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Congenital malformation of the urinary system | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Hereditary disorder of the urinary system | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 8 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 10 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Entire digit | false | Inferred relationship | Some | 10 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 11 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 11 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 9 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Urinary system structure (body structure) | false | Inferred relationship | Some | 8 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 7 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Hand structure | false | Inferred relationship | Some | 6 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Neural tube structure | false | Inferred relationship | Some | 7 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Structure of arch of vertebra | false | Inferred relationship | Some | 9 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Hand structure | true | Inferred relationship | Some | 2 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Urinary system structure (body structure) | true | Inferred relationship | Some | 1 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Structure of arch of vertebra | true | Inferred relationship | Some | 3 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Neural tube structure | true | Inferred relationship | Some | 4 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Finding site | Entire finger | true | Inferred relationship | Some | 5 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets