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41669009: Alteration of chromosome structure (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
69509012 Alteration of chromosome structure en Synonym Active Case insensitive SNOMED CT core
69510019 Alteration of chromosome structure, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
778483011 Alteration of chromosome structure (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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
Balanced autosomal translocation 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 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 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
XY, female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome, XXYY Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome, XY/XXY mosaic Associated morphology False Alteration of chromosome structure Inferred relationship Some
Additional sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Sex chromosome mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Mosaic XO/XY Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Mosaic XO/XX Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Mosaic XY/XXY Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Mosaic including XXXXY Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Duplication of chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Absence of sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Pseudotrisomy 18 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Autosomal deletion - mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype, partial X deletion karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Some

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Reference Sets

Body structure foundation reference set

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