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 |
| 3322773016 | This syndrome has characteristics of 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 | retard mental | 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 | anomalie du développement | 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 | true | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR