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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
69510019 Alteration of chromosome structure, NOS en Synonym Inactive Only initial character 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
Alteration of centromere Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Abnormal chromosomal banding Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Dicentric chromosome Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Isochromosome for long arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Ring chromosome Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chromosome fragment Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Lengthening of short arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chromatid break Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Tricentric chromosome Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chromatolysis Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion of long arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Philadelphia chromosome, Ph^1^, present Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion of short arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Paracentric inversion Is a False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Lengthening of long arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chromosome inversion Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Pericentric inversion Is a False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Philadelphia chromosome, Ph^1^, absent Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Acentric chromosome Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Isochromosome for short arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chromosome break Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier
Triploidy, diploidy, mixoploidy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Four X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
13q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 21- meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 13, meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 18 - meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Monosomy and deletion from autosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion seen only at prometaphase Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Whole chromosome monosomy - meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Monosomy 21, mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Major partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Minor partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Duplication seen only at prometaphase Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Duplication with other complex rearrangement Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Extra marker chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chromosome inversion in normal individual Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Balanced autosomal rearrangement in abnormal individual Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Individual with marker heterochromatin Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Individual with autosomal fragile site Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Karyotype 46, X iso (Xq) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter syndrome, male with 46,XX karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chimera 46, XX; 46, XY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
46, XX true hermaphrodite Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Fragile X chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
21q partial distal trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
21q partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
8q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
20p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome X Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Unbalanced translocation and insertion Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Partial trisomy 21 in Down's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Partial trisomy 18 in Edward's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Partial trisomy 13 in Patau's syndrome 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 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Triploidy and polyploidy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion of part of autosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Balanced rearrangement and structural marker Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Balanced translocation and insertion in normal individual Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Sex chromosome abnormality - female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Turner's phenotype - ring chromosome karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Female with more than three X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Mosaicism - lines with various numbers of X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Sex chromosome abnormality - male phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Male with structurally abnormal sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Male with sex chromosome mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
FRAXA Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
FRAXE Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chromosome replaced with ring or dicentric Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter's syndrome - male with more than two X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy and partial trisomy of autosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion with complex rearrangement Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Mosaicism 45, X; 46, XX Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Gynandromorphism syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Group chromosomal alteration Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group A Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group B Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group C and X Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group D Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group E Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group F Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group G and Y Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 3 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
12p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
20q partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
21q partial monosomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 15 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 13 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
14q partial distal trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 13 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Complete trisomy 14 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
9q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier

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This concept is not in any reference sets

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