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 |
| 3425685011 | Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425686012 | Sex reversion, kidney, adrenal and lung dysgenesis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425687015 | SERKAL syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3780965012 | SERKAL (sex reversion, kidney, adrenal and lung dysgenesis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425689017 | Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3980791000052110 | SERKAL-syndromet | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Congenital anomaly of lung | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Congenital anomaly of adrenal gland (disorder) | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Gonadal dysgenesis | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 4 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 5 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 6 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 7 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 4 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Finding site | Lung structure | false | Inferred relationship | Some | 4 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Finding site | Adrenal structure | false | Inferred relationship | Some | 7 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Finding site | Gonadal structure | false | Inferred relationship | Some | 5 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | 6 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Finding site | Gonadal structure | true | Inferred relationship | Some | 2 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Finding site | Adrenal structure | true | Inferred relationship | Some | 1 | |
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Finding site | Lung structure | true | Inferred relationship | Some | 3 | |
| Sex reversion, kidney, adrenal and lung dysgenesis 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