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 |
| 3498790012 | Aniridia, renal agenesis, psychomotor retardation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498791011 | Sommer Rathbun Battles syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498792016 | Aniridia, renal agenesis, psychomotor retardation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6797051000146118 | syndroom van aniridie, agenesie van nier en psychomotorische retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6797071000146114 | syndroom van Sommer-Rathbun-Battles | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6906711000146110 | syndroom van aniridie, agenesie van nier en psychomotorische retardatie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3499984011 | An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Congenital aniridia (disorder) | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Congenital glaucoma | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Renal agenesis | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Finding site | Entire kidney | true | Inferred relationship | Some | 2 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Finding site | Iris structure | false | Inferred relationship | Some | 3 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Finding site | Iris structure | true | Inferred relationship | Some | 1 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Associated morphology | Aplasia | true | Inferred relationship | Some | 1 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Aniridia, renal agenesis, psychomotor retardation syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Aniridia, renal agenesis, psychomotor retardation syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR