Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3304344013 | Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304345014 | Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304346010 | Karandikar Maria Kamble syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3304347018 | This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | localisation d'une constatation (attribut) | structure anale | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | localisation d'une constatation (attribut) | Structure of genitourinary system | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 5 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 5 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | est un(e) (attribut) | Anal atresia | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | est un(e) (attribut) | anomalies congénitales génito-urinaires | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | localisation d'une constatation (attribut) | Structure of genitourinary system | false | Inferred relationship | Some | 4 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | localisation d'une constatation (attribut) | structure anale | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR