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 |
| 3424112014 | Isodicentric chromosome 15 syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424113016 | Isodicentric chromosome 15 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424114010 | Duplication/inversion 15q11 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424115011 | Isodicentric 15 chromosome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424116012 | Inverted duplication 15 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424117015 | Non-distal tetrasomy 15q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424118013 | A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424119017 | A chromosomal disorder with distinctive clinical findings characterised by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behaviour. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3977841000052115 | isodicentrisk kromosom 15-syndrom | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Isodicentric chromosome 15 syndrome (disorder) | Is a | Anomaly of chromosome pair 15 | true | Inferred relationship | Some | ||
| Isodicentric chromosome 15 syndrome (disorder) | Is a | Pervasive developmental disorder (disorder) | true | Inferred relationship | Some | ||
| Isodicentric chromosome 15 syndrome (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
| Isodicentric chromosome 15 syndrome (disorder) | Associated morphology | Alteration of chromosome structure | false | Inferred relationship | Some | 1 | |
| Isodicentric chromosome 15 syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Isodicentric chromosome 15 syndrome (disorder) | Finding site | Chromosome pair 15 | true | Inferred relationship | Some | 1 | |
| Isodicentric chromosome 15 syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Isodicentric chromosome 15 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Isodicentric chromosome 15 syndrome (disorder) | Is a | Congenital malformation | true | Inferred relationship | Some | ||
| Isodicentric chromosome 15 syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Isodicentric chromosome 15 syndrome (disorder) | Associated morphology | Tetrasomy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR