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41669009: Alteration of chromosome structure (morphologic abnormality)

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

Descriptions:

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

22 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alteration of chromosome structure Is a Chromosomal morphology true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
9q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Cat eye syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
11p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 14 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 10 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
13q partial monosomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 17 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 2 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
7q partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Sex phenotype-karyotype dissociation syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 7 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 12 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Turner syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
XXXXY syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
12q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 21 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
18p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Penta X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 6 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
16q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 8 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
11q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
10p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
17q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
4p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 9 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Double Y syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
22q partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 18 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
17p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 20 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 16 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
13p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
2p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 5 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 18 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
2q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 11 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Fragile X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Triploidy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
18q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 8 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 21 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
15q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 22 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 22 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Polyploidy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
10q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Partial trisomy of short arm of chromosome 5 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Partial tetrasomy of chromosome 9 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Congenital disorder due to abnormality of chromosome number OR structure Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 9 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
XX males Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 1 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
14q partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
19q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
6q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Angelman syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 16 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
3p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
9p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
8p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 10 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
XXXY syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete monosomy 21 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Autosomal recessive ocular albinism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
1q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 19 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome Y Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
XY females Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
7p partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Mixed gonadal dysgenesis Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
14q partial proximal trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
6p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 4 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
16p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
4q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Prader-Willi syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
3q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Tetrasomy 12p syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 20 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Antimongolism syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion of long arm of chromosome 13 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Balanced autosomal translocation Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Whole chromosome trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 6 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 7 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 8 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 9 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 10 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 11 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 12 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 22 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Whole chromosome trisomy, meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Whole chromosome trisomy, mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Partial trisomy syndromes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Turner's phenotype, karyotype normal Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier

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