Status: current. Date: 31-Dec 2022
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159427015 | Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159428013 | Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159431014 | A rare genetic disease with characteristics of congenital cataract, neonatal hepatic failure, cholestatic jaundice and global developmental delay. Neonatal death due to progressive liver failure has been reported. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400412018 | A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400413011 | A rare genetic disease characterised by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Is a | Global developmental delay | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Is a | Hepatic failure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Is a | Congenital disease | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Is a | Genetic disease | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Associated morphology | Opacity | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Occurrence | Congenital | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Finding site | Lens clear | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Occurrence | Neonatal | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 2 | |
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Finding site | Liver structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR