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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 Is a Chromosomal morphology true Inferred relationship Some
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 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
Deletion of long arm of chromosome 18 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion of short arm of chromosome 18 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome XXXY Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome XXXXY Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other deletions of part of a chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other deletion of part of a chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletions with other complex rearrangements Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome monosomy, mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other deletions from the autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Monosomies and deletions from the autosomes NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other condition due to autosomal anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other trisomy C syndromes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other specified whole chromosome trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial trisomy syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomies of autosomes NEC Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy of autosomes NEC NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced rearrangement or structural marker NEC NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other sex chromosome anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Some
Sex chromosome mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other sex chromosome abnormality NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Sex chromosome anomaly NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Chromosomal anomalies NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Additional chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion of chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Conditions due to anomaly of unspecified chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Chromosomal abnormalities, not elsewhere classified Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other specified trisomies and partial trisomies of autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other deletions of part of a chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other deletions from the autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other balanced rearrangements and structural markers Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Balanced rearrangement and structural marker, unspecified Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other variants of Turner's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other male with 46,XX karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other specified sex chromosome abnormalities, male phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Other specified chromosome abnormalities Associated morphology False Alteration of chromosome structure Inferred relationship Some
[X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Alteration of chromosome structure Inferred relationship Some
Aneuploidy NEC Associated morphology False Alteration of chromosome structure Inferred relationship Some
Down's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Edward's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Patau's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Ovarian dwarfism NEC Associated morphology False Alteration of chromosome structure Inferred relationship Some
Bonnevie-Ullrich syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced rearrangements and structural markers NEC Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other specified conditions due to autosomal anomalies Associated morphology False Alteration of chromosome structure Inferred relationship Some
Unspecified conditions due to autosomal anomalies Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype, other variant karyotypes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turner's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Some
Other specified sex chromosome anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Some
22q partial monosomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Translocation Down syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Pallister-Killian syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Aplasia cutis in Trisomy 13 syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Autosomal chromosomal disorder (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
XXYY syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Poly Y syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Isologous chimera Associated morphology False Alteration of chromosome structure Inferred relationship Some
Chimera Associated morphology False Alteration of chromosome structure Inferred relationship Some
chimère postirradiation Associated morphology False Alteration of chromosome structure Inferred relationship Some
Heterologous chimera Associated morphology False Alteration of chromosome structure Inferred relationship Some
Homologous chimera Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome, XXY (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome Associated morphology False 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 (disorder) 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
A male with two or more X chromosomes. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Klinefelter's syndrome, XXY (disorder) 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
A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion. Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%). Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures. Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Uniparental disomy (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Some 1
Uniparental disomy of maternal origin (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Some 1

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