Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3316404014 | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3316405010 | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3316406011 | Cardiogenital syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3316407019 | Malouf syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3316408012 | Najjar syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3316409016 | Syndrome that associates dilated cardiomyopathy with hypergonadotropic hypogonadism. Prevalence is unknown but less than 20 affected families have been described in the literature so far. Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies and metabolic abnormalities. Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia). Transmission appears to be autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Congenital anomaly of myocardium | true | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Primary hypogonadism | true | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Congestive cardiomyopathy | true | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Associated morphology | Dilatation | false | Inferred relationship | Some | 2 | |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Finding site | Myocardium structure | false | Inferred relationship | Some | 2 | |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Associated morphology | Dilatation | true | Inferred relationship | Some | 1 | |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 3 | |
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Is a | Congenital cardiovascular disorder | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR