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

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