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 |
| 3424123013 | A very rare syndrome with characteristics of intellectual deficit, horseshoe kidney, and congenital heart defects. Four cases have been reported in the literature in two unrelated families. Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other. The condition is probably hereditary and transmitted as an autosomal recessive trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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