Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3332236013 | A multiple malformation syndrome with characteristics of congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Less than 15 patients have been reported worldwide. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. All patients reported to date died in early childhood. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402958019 | Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402959010 | Meacham syndrome is a multiple malformation syndrome characterised by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332233017 | Meacham syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332234011 | Meacham syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332235012 | Meacham Winn Culler syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Is a | Congenital anomaly of diaphragm | true | Inferred relationship | Some | ||
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Is a | ubestemmeligt køn og pseudohermafroditisme | false | Inferred relationship | Some | ||
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Associated morphology | dysgenese | false | Inferred relationship | Some | 3 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Associated morphology | dysgenese | false | Inferred relationship | Some | 5 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Finding site | Heart structure | false | Inferred relationship | Some | 5 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Finding site | Diaphragm structure | true | Inferred relationship | Some | 3 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Finding site | Genital structure | false | Inferred relationship | Some | 4 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Finding site | Genital structure | true | Inferred relationship | Some | 2 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Finding site | Heart structure | true | Inferred relationship | Some | 1 | |
| Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. | Is a | Congenital malformation of genital organs | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR