Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core
Descriptions:
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Is a | Congenital disease | false | Inferred relationship | Some | ||
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Associated morphology | Alteration of chromosome structure | false | Inferred relationship | Some | ||
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Is a | Chromosomal disorder (disorder) | false | Inferred relationship | Some | ||
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Associated morphology | kongenit anomali | false | Inferred relationship | Some | 1 | |
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Finding site | Chromosome structure | false | Inferred relationship | Some | 1 | |
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Finding site | Chromosome structure | false | Inferred relationship | Some | 1 | |
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Associated morphology | kongenit anomali | false | Inferred relationship | Some | ||
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Is a | kongenit anomali | false | Inferred relationship | Some | ||
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Is a | Congenital disease | true | Inferred relationship | Some | ||
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Finding site | Chromosome structure | true | Inferred relationship | Some | 1 | |
| Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Is a | Chromosomal disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Triploidy, diploidy, mixoploidy syndrome | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Monosomy and deletion from autosome | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Duplication seen only at prometaphase | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Duplication with other complex rearrangement | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Chimera 46, XX; 46, XY | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| 46, XX ægte hermafrodit | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Triploidy and polyploidy | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Balanced rearrangement and structural marker | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Kromosom erstattet af ring eller dicentrisk | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Trisomy and partial trisomy of autosome | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Fragile X syndrome | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Autosomal recessive ocular albinism | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Anomaly of chromosome pair | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Duplication of chromosome | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Absence of sex chromosome (disorder) | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Pseudotrisomy 18 | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| anden tilstand forårsaget af autosomal anomali | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| anden kønskromosomanomali | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| kromosomale anomalier, ikke nærmere specificeret | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| [X]Chromosomal abnormalities, not elsewhere classified | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| [X]Other specified chromosome abnormalities | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Family history of chromosomal anomaly (situation) | Associated finding | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | 1 |
| Pallister-Killians syndrom | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Autosomal chromosomal disorder (disorder) | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| XXYY syndrome (disorder) | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Chimera | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Group chromosomal alteration | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| [X]Townes-Brocks syndrome | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Suspected chromosome abnormality | Associated finding | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | 1 |
| Family history of chromosomal anomaly (situation) | Associated finding | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | 1 |
| Suspected chromosome abnormality | Associated finding | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | 1 |
| Chromosomal alterations of group A | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Chromosomal alterations of group C and X | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Chromosomal alterations of group D | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Chromosomal alterations of group B | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Anomaly of chromosome X | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Polyploidy syndrome | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Chromosomal alterations of group E | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Chromosomal alterations of group F (disorder) | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Anomaly of chromosome Y | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Chromosomal alterations of group G and Y | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Anomaly of sex chromosome | Is a | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Family history of chromosomal anomaly (situation) | Associated finding | False | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | 1 |
| Mosaic variegated aneuploidy syndrome (disorder) | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Emanuel syndrome | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some | |
| Ring chromosome | Is a | True | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR