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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
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
Chromosome break Is a True Alteration of chromosome structure Inferred relationship Some
Group chromosomal alteration Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Chromosomal alterations of group A Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Chromosomal alterations of group D Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Chromosomal alterations of group C and X Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Chromosomal alterations of group E Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Chromosomal alterations of group F Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Chromosomal alterations of group B Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Chromosomal alterations of group G and Y Associated morphology False Alteration of chromosome structure Inferred relationship Some 2
Triploidy, diploidy, mixoploidy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Four X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
13q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 21- meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 13, meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 18 - meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Monosomy and deletion from autosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion seen only at prometaphase Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome monosomy - meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Monosomy 21, mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Major partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Some
Minor partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Some
Duplication seen only at prometaphase Associated morphology False Alteration of chromosome structure Inferred relationship Some
Duplication with other complex rearrangement Associated morphology False Alteration of chromosome structure Inferred relationship Some
Extra marker chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Chromosome inversion in normal individual Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced autosomal rearrangement in abnormal individual Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False Alteration of chromosome structure Inferred relationship Some
Individual with marker heterochromatin Associated morphology False Alteration of chromosome structure Inferred relationship Some
Individual with autosomal fragile site Associated morphology False Alteration of chromosome structure Inferred relationship Some
Karyotype 46, X iso (Xq) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter syndrome, male with 46,XX karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
Chimera 46, XX; 46, XY Associated morphology False Alteration of chromosome structure Inferred relationship Some
46, XX true hermaphrodite Associated morphology False Alteration of chromosome structure Inferred relationship Some
Fragile X chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
21q partial distal trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Some
21q partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Some
8q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
20p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome X Associated morphology False Alteration of chromosome structure Inferred relationship Some
Unbalanced translocation and insertion Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial trisomy 21 in Down's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial trisomy 18 in Edward's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial trisomy 13 in Patau's syndrome 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 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Triploidy and polyploidy Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion of part of autosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced rearrangement and structural marker Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced translocation and insertion in normal individual Associated morphology False Alteration of chromosome structure Inferred relationship Some
Sex chromosome abnormality - female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype - ring chromosome karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
Female with more than three X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Mosaicism - lines with various numbers of X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Sex chromosome abnormality - male phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
Male with structurally abnormal sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Male with sex chromosome mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
FRAXA Associated morphology False Alteration of chromosome structure Inferred relationship Some
FRAXE Associated morphology False Alteration of chromosome structure Inferred relationship Some
Chromosome replaced with ring or dicentric Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy and partial trisomy of autosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion with complex rearrangement Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter syndrome Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Klinefelter's syndrome, XXY Associated morphology True Alteration of chromosome structure Inferred relationship Some 2
Klinefelter's syndrome XXXY Associated morphology True Alteration of chromosome structure Inferred relationship Some 2
Klinefelter's syndrome XXXXY Associated morphology True Alteration of chromosome structure Inferred relationship Some 2
Klinefelter's syndrome, XXYY Associated morphology True Alteration of chromosome structure Inferred relationship Some 2
Klinefelter's syndrome, XY/XXY mosaic Associated morphology True Alteration of chromosome structure Inferred relationship Some 2
Partial chromosome Y deletion Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Recombinant chromosome 8 syndrome Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
8p inverted duplication deletion syndrome Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Mosaicism 45, X; 46, XX Associated morphology False Alteration of chromosome structure Inferred relationship Some
Duplication/inversion 15q11 Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Gynandromorphism syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Group chromosomal alteration Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group A Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group B Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group C and X Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group D Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group E Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group F Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group G and Y Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Uniparental disomy Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Uniparental disomy of maternal origin Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Uniparental disomy of paternal origin Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Anomaly of chromosome pair 3 Associated morphology False Alteration of chromosome structure Inferred relationship Some
12p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
20q partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Some
21q partial monosomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 15 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 13 Associated morphology False Alteration of chromosome structure Inferred relationship Some
14q partial distal trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 13 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 14 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter syndrome 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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