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 |
| 3322764012 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322765013 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322771019 | AMME complex | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322772014 | AMME syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402550018 | A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402551019 | A rare constitutional haemolytic anaemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Hereditary elliptocytosis | true | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Congenital nephritis | true | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Hereditary nephritis (disorder) | true | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Erythrocyte | false | Inferred relationship | Some | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Associated morphology | Deletion of long arm | false | Inferred relationship | Some | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Sex chromosome X | false | Inferred relationship | Some | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Associated morphology | Chronic inflammation | false | Inferred relationship | Some | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Glomerulus structure | false | Inferred relationship | Some | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Structure of auditory system (body structure) | false | Inferred relationship | Some | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Interprets | Hearing | false | Inferred relationship | Some | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Alport syndrome (disorder) | false | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Associated morphology | Deletion of long arm | true | Inferred relationship | Some | 2 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Sex chromosome X | true | Inferred relationship | Some | 2 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Glomerulus structure | true | Inferred relationship | Some | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Associated morphology | Chronic inflammation | false | Inferred relationship | Some | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 7 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 8 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Associated morphology | Elliptocyte | true | Inferred relationship | Some | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Interprets | Hemolysis (observable entity) | true | Inferred relationship | Some | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 8 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Has interpretation | Present | true | Inferred relationship | Some | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 7 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | Associated morphology | Chronic inflammatory morphology (morphologic abnormality) | 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