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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | survenue (attribut) | congénital | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | anomalie congénitale des reins | true | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | morphologie associée (attribut) | Deletion of long arm | true | Inferred relationship | Some | 2 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | Sex chromosome X (cell structure) | true | Inferred relationship | Some | 2 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | Glomerulus structure | true | Inferred relationship | Some | 1 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | morphologie associée (attribut) | Chronic inflammation | true | Inferred relationship | Some | 1 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | interprète (attribut) | Red blood cell count | true | Inferred relationship | Some | 7 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 9 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 8 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | Erythrocyte | true | Inferred relationship | Some | 9 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | morphologie associée (attribut) | Elliptocyte (cell) | true | Inferred relationship | Some | 9 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | interprète (attribut) | Hemolysis (observable entity) | true | Inferred relationship | Some | 6 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | interprète (attribut) | 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) | a pour interprétation (attribut) | présent (valeur de l'attribut) | true | Inferred relationship | Some | 6 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 7 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | Anomaly of chromosome X | true | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | true | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | Hereditary elliptocytosis | true | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | Congenital nephritis | true | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | Hereditary nephritis (disorder) | true | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | Erythrocyte | false | Inferred relationship | Some | 6 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 4 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | morphologie associée (attribut) | Deletion of long arm | false | Inferred relationship | Some | 5 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | Sex chromosome X (cell structure) | false | Inferred relationship | Some | 5 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | morphologie associée (attribut) | Chronic inflammation | false | Inferred relationship | Some | 6 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | Glomerulus structure | false | Inferred relationship | Some | 6 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | false | Inferred relationship | Some | 9 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | false | Inferred relationship | Some | 1 | |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | syndrome d'Alport | false | Inferred relationship | Some | ||
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets