Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3472763017 | 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3472764011 | 46,XX disorder of sex development with skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3472765012 | Female pseudohermaphroditism with skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3472766013 | Syndrome that is characterized by primary amenorrhea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3472767016 | Syndrome that is characterised by primary amenorrhoea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 888551000172116 | syndrome d'anomalie du développement sexuel 46,XX-anomalies squelettiques | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Ambiguous genitalia | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Pseudohermaphroditism | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Finding site | External genitalia structure | false | Inferred relationship | Some | 3 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Finding site | External genitalia structure | true | Inferred relationship | Some | 1 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | 46,XX disorder of sex development | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR