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 |
| 5403831018 | A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403832013 | A rare disorder of sex development characterised by primary amenorrhoea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 | Developmental anomaly | 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 | Developmental anomaly | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR