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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | morphologie associée (attribut) | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | main | true | Inferred relationship | Some | 2 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | Urinary system structure | true | Inferred relationship | Some | 1 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | Structure of arch of vertebra | true | Inferred relationship | Some | 3 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | Neural tube structure | true | Inferred relationship | Some | 4 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | Entire finger | true | Inferred relationship | Some | 5 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Congenital cleft hand | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Spina bifida | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Congenital malformation of the urinary system | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the urinary system | true | Inferred relationship | Some | ||
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 8 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 10 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 10 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | Entire digit | false | Inferred relationship | Some | 10 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 11 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 11 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | false | Inferred relationship | Some | 11 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 9 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | Urinary system structure | false | Inferred relationship | Some | 8 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | main | false | Inferred relationship | Some | 6 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | Neural tube structure | false | Inferred relationship | Some | 7 | |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) | localisation d'une constatation (attribut) | Structure of arch of vertebra | false | Inferred relationship | Some | 9 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets