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 |
| 6741911000146115 | syndroom van Karandikar-Maria-Kamble | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6936071000146111 | syndroom van congenitaal cataract, mentale retardatie, atresie van anus en afwijking van urinewegen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495671000146115 | syndroom van congenitaal cataract, verstandelijke beperking, atresie van anus en afwijking van urinewegen (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7572441000146116 | syndroom van congenitaal cataract, verstandelijke beperking, atresie van anus en afwijking van urinewegen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7572451000146118 | syndroom van congenitaal cataract, verstandelijke handicap, atresie van anus en afwijking van urinewegen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Associated morphology | congenitaal cataract | false | Inferred relationship | Some | 5 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 5 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Is a | Anal atresia | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Is a | Genitourinary congenital anomalies | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 4 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Finding site | Structure of genitourinary system (body structure) | false | Inferred relationship | Some | 4 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Associated morphology | atresie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Finding site | Anal structure | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| 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) | Occurrence | Congenital | 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) | Finding site | Anal structure | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Associated morphology | atresie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Finding site | Structure of genitourinary system (body structure) | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Associated morphology | cataract | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR