Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5353872011 | Myelin regulatory factor-related cardiac urogenital syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5353874012 | MYRF-related cardiac urogenital syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5353875013 | Cardiac urogenital syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5353876014 | Cardiac urogenital syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5353873018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)