41669009: Alteration of chromosome structure (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Cellular AND/OR subcellular abnormality\Chromosomal morphology\Alteration of chromosome structure

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alteration of chromosome structure	Is a	Chromosomal morphology	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
9q partial trisomy syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Cat eye syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
11p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 14	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 10	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
13q partial monosomy syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 17	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 2	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
7q partial trisomy (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy X syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Sex phenotype-karyotype dissociation syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 7	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 12	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Turner syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
XXXXY syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
12q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete trisomy 21 syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
18p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Penta X syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 6	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
trisomie partielle 16q	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 8	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
11q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
10p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
17q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
4p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 9	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Double Y syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
22q partial trisomy (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete trisomy 18 syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
17p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 16	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
13p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
2p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 5	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 18	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
2q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 11 (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Fragile X syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Triploidy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
18q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete trisomy 8 syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 21	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
trisomie partielle 15q	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 22	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete trisomy 22 syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Polyploidy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
10q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
5p partial trisomy	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Partial tetrasomy of chromosome 9 (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Congenital chromosomal disease	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete trisomy 9 syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
XX males	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 1	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
14q partial trisomy (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
19q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
6q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Angelman syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete trisomy 16 syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
3p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
9p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
8p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
trisomie totale 10	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
XXXY syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete monosomy 21 (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Autosomal recessive ocular albinism (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	1
1q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 19	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome Y	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
XY females	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
7p partial trisomy (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Mixed gonadal dysgenesis	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
14q partial proximal trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
6p partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 4	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
trisomie partielle 16p	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
4q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Prader-Willi syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
3q partial trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of sex chromosome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair 20	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Anomaly of chromosome pair	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Antimongolism syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Deletion of long arm of chromosome 13	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
translocation autosomique équilibrée	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Whole chromosome trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy 6	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy 7	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy 8	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy 9	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy 10 (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy 11	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy 12	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy 22	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Whole chromosome trisomy, meiotic nondisjunction	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Whole chromosome trisomy, mosaicism	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Partial trisomy syndromes	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Turner's phenotype, karyotype normal (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some

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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
7807111000172110	verandering van chromosomale structuur	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7807121000172117	verandering van chromosoomstructuur	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)