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 |
| 3304772015 | Mullerian duct and limb anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304773013 | Mullerian duct and limb anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304774019 | Syndrome with the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mullerian duct and limb anomalies syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Mullerian duct and limb anomalies syndrome (disorder) | Is a | Congenital anomaly of limb | true | Inferred relationship | Some | ||
| Mullerian duct and limb anomalies syndrome (disorder) | Is a | Disorder of embryonic structure (disorder) | true | Inferred relationship | Some | ||
| Mullerian duct and limb anomalies syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Finding site | Structure of paramesonephric duct | false | Inferred relationship | Some | 2 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Finding site | Limb structure | false | Inferred relationship | Some | 3 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 2 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Finding site | Structure of paramesonephric duct | true | Inferred relationship | Some | 1 | |
| Mullerian duct and limb anomalies syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR