Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3330113016 | Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402768018 | Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3330109011 | Isotretinoin embryopathy-like syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330110018 | Isotretinoin-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330111019 | Kawashima syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3330112014 | Microtia aortic arch syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330116012 | Isotretinoin embryopathy-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Is a | Microtia (disorder) | true | Inferred relationship | Some | ||
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Is a | Congenital anomaly of aortic arch | true | Inferred relationship | Some | ||
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Is a | Congenital anomaly of central nervous system | true | Inferred relationship | Some | ||
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Associated morphology | dysgenese | false | Inferred relationship | Some | 5 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Associated morphology | dysgenese | false | Inferred relationship | Some | 6 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 6 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Associated morphology | kongenit lille statur | false | Inferred relationship | Some | 4 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Finding site | External ear structure | true | Inferred relationship | Some | 4 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Finding site | Face structure | false | Inferred relationship | Some | 5 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Associated morphology | dysgenese | false | Inferred relationship | Some | 7 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Finding site | Aortic arch structure | false | Inferred relationship | Some | 7 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Finding site | Aortic arch structure | true | Inferred relationship | Some | 1 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR