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 |
| 5403005016 | A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403006015 | A very rare syndrome characterised by intellectual deficit, horseshoe kidney, and congenital heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424120011 | Faciocardiorenal syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424121010 | Faciocardiorenal syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424122015 | Eastman Bixler syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | Horseshoe kidney | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | mental retardering | false | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Finding site | Heart structure | false | Inferred relationship | Some | 4 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Associated morphology | dysgenese | false | Inferred relationship | Some | 3 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Finding site | Heart structure | true | Inferred relationship | Some | 3 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Associated morphology | kongenit abnorm sammenvoksning | false | Inferred relationship | Some | 5 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Finding site | Kidney structure | false | Inferred relationship | Some | 5 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Associated morphology | kongenit abnorm sammenvoksning | false | Inferred relationship | Some | 1 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Finding site | Kidney structure | true | Inferred relationship | Some | 1 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. | Associated morphology | Fusion that has occurred in a structure that is not normally fused. | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR