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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
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
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
XY, female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter's syndrome, XXYY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter's syndrome, XY/XXY mosaic Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Additional sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Sex chromosome mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Mosaic XO/XY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Mosaic XO/XX Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Mosaic XY/XXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Mosaic including XXXXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Duplication of chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Absence of sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Pseudotrisomy 18 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Autosomal deletion - mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Turner's phenotype, partial X deletion karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion of long arm of chromosome 18 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion of short arm of chromosome 18 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter's syndrome XXXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter's syndrome XXXXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other deletions of part of a chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other deletion of part of a chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletions with other complex rearrangements Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Whole chromosome monosomy, mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other deletions from the autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Monosomies and deletions from the autosomes NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other condition due to autosomal anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other trisomy C syndromes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other specified whole chromosome trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Whole chromosome trisomy syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Partial trisomy syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomies of autosomes NEC Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Trisomy of autosomes NEC NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Balanced rearrangement or structural marker NEC NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other sex chromosome anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Sex chromosome mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other sex chromosome abnormality NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Sex chromosome anomaly NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chromosomal anomalies NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Additional chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Deletion of chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Conditions due to anomaly of unspecified chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Chromosomal abnormalities, not elsewhere classified Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other specified trisomies and partial trisomies of autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other deletions of part of a chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other deletions from the autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other balanced rearrangements and structural markers Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Balanced rearrangement and structural marker, unspecified Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other variants of Turner's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other male with 46,XX karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other specified sex chromosome abnormalities, male phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Other specified chromosome abnormalities Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
[X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Aneuploidy NEC Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Down's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Edward's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Patau's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Ovarian dwarfism NEC Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Bonnevie-Ullrich syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Balanced rearrangements and structural markers NEC Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other specified conditions due to autosomal anomalies Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Unspecified conditions due to autosomal anomalies Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Turner's phenotype, other variant karyotypes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Turner's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Other specified sex chromosome anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
22q partial monosomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Translocation Down syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Pallister-Killian syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Aplasia cutis in Trisomy 13 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Autosomal chromosomal disorder Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
XXYY syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Poly Y syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Isologous chimera Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Chimera Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Radiation chimera Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Heterologous chimera Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Homologous chimera Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter's syndrome, XXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier
Klinefelter's 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 2
Chromosomal alterations of group A Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Chromosomal alterations of group D Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Chromosomal alterations of group C and X Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Chromosomal alterations of group E Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Chromosomal alterations of group F Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Chromosomal alterations of group B Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Chromosomal alterations of group G and Y Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Klinefelter syndrome Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Klinefelter's syndrome, XXY Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Klinefelter's syndrome XXXY Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Klinefelter's syndrome XXXXY Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Klinefelter's syndrome, XXYY Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Klinefelter's syndrome, XY/XXY mosaic Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 2
Partial chromosome Y deletion Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Recombinant chromosome 8 syndrome Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
8p inverted duplication deletion syndrome Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Isodicentric chromosome 15 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Uniparental disomy Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 1
Uniparental disomy of maternal origin Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier 1

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