| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Monosomy 21, mosaicism |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Other specified conditions due to autosomal anomalies |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Other deletion of part of a chromosome NOS |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| [X]Townes-Brocks syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Monosomy and deletion from autosome |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Deletions with other complex rearrangements |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Balanced rearrangements and structural markers NEC |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Other deletions from the autosomes |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosome replaced with ring or dicentric |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group G and Y |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| [X]Chromosomal abnormalities, not elsewhere classified (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Whole chromosome monosomy, mosaicism NOS |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Individual with autosomal fragile site |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal anomalies NOS |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 11 |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Heterologous chimera |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Fragile X syndrome |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Other specified sex chromosome anomaly |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomies of autosomes NEC |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Unspecified conditions due to autosomal anomalies |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Balanced autosomal translocation |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group B |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Whole chromosome trisomy syndrome |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Partial trisomy syndromes |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| [X]Other deletions of part of a chromosome |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| [X]Balanced rearrangement and structural marker, unspecified |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group E |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Triploidy, diploidy, mixoploidy syndrome |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| [X]Other specified trisomies and partial trisomies of autosomes |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Major partial trisomy |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 10 |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| XXYY syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Duplication seen only at prometaphase |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Group chromosomal alteration |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group A |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Mosaic variegated aneuploidy syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosome replaced with ring or dicentric |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group B |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Triploidy, diploidy, mixoploidy syndrome |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Partial trisomy syndromes |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group E |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Whole chromosome trisomy - mitotic nondisjunction mosaicism |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group D |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group G and Y |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Homologous chimera |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Triploidy and polyploidy |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Pseudotrisomy 18 |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 7 |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| 46, XX true hermaphrodite |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| maladie chromosomique congénitale |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Duplication with other complex rearrangement |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 6 |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Isologous chimera |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 22 |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| chimère postirradiation |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Heterologous chimera |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chimera |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Whole chromosome trisomy, mosaicism |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chimera 46, XX; 46, XY |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Minor partial trisomy |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group F |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 11 |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Chromosomal alterations of group C and X |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 9 |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Whole chromosome trisomy, meiotic nondisjunction (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy and partial trisomy of autosome |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Triploidy syndrome |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Polyploidy syndrome |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Pallister-Killian syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Whole chromosome trisomy syndrome |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Whole chromosome trisomy meiotic nondisjunction (disorder) |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 8 |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Trisomy 12 |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Ring chromosome 14 syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Emanuel syndrome |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Fragile X syndrome |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Meretoja syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Lattice corneal dystrophy Type II (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Familial extra unidentified structurally abnormal chromosome (disorder) |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Fetus with chromosomal abnormality |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Macular corneal dystrophy |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
|
| Balanced autosomal rearrangement in abnormal individual |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Autosomal chromosomal disorder (disorder) |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| anomalie chromosomique |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Balanced rearrangement and structural marker |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Congenital macular corneal dystrophy |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
|
| Lattice corneal dystrophy, isolated form |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
|
| Gelatinous droplike corneal dystrophy (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
3 |
| Unbalanced translocation and insertion |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Individual with autosomal fragile site |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Extra unidentified structurally abnormal chromosome (disorder) |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Duplication of chromosome |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Unbalanced translocation of chromosome (disorder) |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
| Balanced translocation and insertion in normal individual |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Macular corneal dystrophy Type I (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
|
| Suspect cystic fibrosis fetus |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
|
| Fetus with chromosomal abnormality with antenatal problem |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Individual with marker heterochromatin |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Fetus with chromosomal abnormality - delivered |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
1 |
| Macular corneal dystrophy Type II (disorder) |
localisation d'une constatation (attribut) |
False |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
|
| Autosomal aneuploidy (disorder) |
localisation d'une constatation (attribut) |
True |
Chromosome structure (cell structure) |
Inferred relationship |
Some |
2 |
FHIR