Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
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 | SNOMED CT core module |
| 3322765013 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3322771019 | AMME complex | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3322772014 | AMME syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Anomaly of chromosome X | true | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | X-linked hereditary disease | true | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Hereditary elliptocytosis | true | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Congenital nephritis | true | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Hereditary nephritis | true | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Erythrocyte | false | Inferred relationship | Existential restriction modifier | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Face structure | false | Inferred relationship | Existential restriction modifier | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Associated morphology | Deletion of long arm | false | Inferred relationship | Existential restriction modifier | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Sex chromosome X | false | Inferred relationship | Existential restriction modifier | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Associated morphology | Chronic inflammation | false | Inferred relationship | Existential restriction modifier | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Glomerulus structure | false | Inferred relationship | Existential restriction modifier | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Structure of auditory system | false | Inferred relationship | Existential restriction modifier | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Interprets | Hearing, function | false | Inferred relationship | Existential restriction modifier | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Alport syndrome | false | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Existential restriction modifier | ||
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Associated morphology | Deletion of long arm | true | Inferred relationship | Existential restriction modifier | 2 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Sex chromosome X | true | Inferred relationship | Existential restriction modifier | 2 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Glomerulus structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Associated morphology | Chronic inflammation | true | Inferred relationship | Existential restriction modifier | 1 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Interprets | Red blood cell count | true | Inferred relationship | Existential restriction modifier | 7 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 8 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Finding site | Erythrocyte | true | Inferred relationship | Existential restriction modifier | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Associated morphology | Elliptocyte | true | Inferred relationship | Existential restriction modifier | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Interprets | Hemolysis | true | Inferred relationship | Existential restriction modifier | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Interprets | Measurement of total hemoglobin concentration | true | Inferred relationship | Existential restriction modifier | 8 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 9 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Has interpretation | Present | true | Inferred relationship | Existential restriction modifier | 6 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 7 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR