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41669009: Alteration of chromosome structure (morphologic abnormality)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
69509012 Alteration of chromosome structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
778483011 Alteration of chromosome structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


22 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alteration of chromosome structure est un(e) (attribut) Chromosomal morphology true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Klinefelter syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
9q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Cat eye syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
11p partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 14 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 10 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
13q partial monosomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 17 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 2 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
7q partial trisomy (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy X syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Sex phenotype-karyotype dissociation syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 7 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 12 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
syndrome de Turner morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
XXXXY syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
12q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
syndrome de Down (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
18p partial trisomy syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Penta X syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 6 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
16q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 8 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
11q partial trisomy syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
10p partial trisomy syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
17q partial trisomy syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
4p partial trisomy syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 9 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Double Y syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
22q partial trisomy (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 18 syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
17p partial trisomy syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 20 syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 16 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
13p partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
2p partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 5 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 18 (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
2q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 11 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Fragile X syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Triploidy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
18q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 8 syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 21 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
15q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
anomalie du chromosome 22 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 22 syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Polyploidy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
10q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
5p partial trisomy morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Partial tetrasomy of chromosome 9 (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
maladie chromosomique congénitale morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 9 syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
XX males morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 1 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
14q partial trisomy (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
19q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
6q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Angelman syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 16 syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
3p partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
9p partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
8p partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 10 syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
XXXY syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Complete monosomy 21 (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Autosomal recessive ocular albinism morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some 1
1q partial trisomy syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 19 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome Y morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
XY females morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
7p partial trisomy (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Mixed gonadal dysgenesis morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
14q partial proximal trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
6p partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 4 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
16p partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
4q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Prader-Willi syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
3q partial trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
tétrasomie 12p (trouble) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Maternal uniparental disomy of chromosome 20 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 20 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 2 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 6 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 9 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 4 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 21 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 1 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 7 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Anomaly of sex chromosome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
X small rings morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Anomaly of chromosome pair 20 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Paternal uniparental disomy of chromosome 5 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 1 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 6 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 13 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 13 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Antimongolism syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some

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