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 |
| 763381000241116 | syndrome d'anomalie du développement sexuel 46,XX-anomalies squelettiques (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | localisation d'une constatation (attribut) | organes génitaux externes (structure corporelle) | true | Inferred relationship | Some | 1 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | 46,XX disorder of sex development | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Ambiguous genitalia | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Pseudohermaphroditism | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
| 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) | localisation d'une constatation (attribut) | organes génitaux externes (structure corporelle) | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR