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 |
| 3500044015 | XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3500045019 | XY type gonadal dysgenesis with associated anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3500046018 | Gonadal dysgenesis XY type with associated anomalies | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3500043014 | An association syndrome described only once in two sisters. They had a 46,XY karyotype, cleft lip and palate, preauricular pits and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Is a | Pure gonadal dysgenesis 46,XY | true | Inferred relationship | Some | ||
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Finding site | Lip structure | true | Inferred relationship | Some | 3 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Finding site | Gonadal structure | false | Inferred relationship | Some | 4 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 5 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Finding site | Gonadal structure | true | Inferred relationship | Some | 2 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 1 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 4 | |
| XY type gonadal dysgenesis with associated anomalies syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
| XY type gonadal dysgenesis with associated 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