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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
4452471000005119 ændring i kromosomstruktur da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
Turners fænotype, mosaicisme 45, X; 46, XX eller 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 (disorder) 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
andre deletioner af en del af et kromosom Associated morphology False Alteration of chromosome structure Inferred relationship Some
anden deletion af en del af et kromosom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
deletioner med andre komplekse rearrangementer Associated morphology False Alteration of chromosome structure Inferred relationship Some
monosomi af helt kromosom, mosaicisme, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
andre deletioner fra autosomerne Associated morphology False Alteration of chromosome structure Inferred relationship Some
monosomier og deletioner fra autosomerne, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
anden tilstand forårsaget af autosomal anomali Associated morphology False Alteration of chromosome structure Inferred relationship Some
andre trisomi C-syndromer Associated morphology False Alteration of chromosome structure Inferred relationship Some
andet specificeret helt kromosom-trisomi-syndrom Associated morphology False Alteration of chromosome structure Inferred relationship Some
helt kromosom-trisomi-syndrom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
partiel trisomi-syndrom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
trisomier af autosomer, ikke klassificeret andetsteds Associated morphology False Alteration of chromosome structure Inferred relationship Some
trisomi af autosomer, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
balanceret rearrangement eller strukturel markør, ikke klassificeret andetsteds, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelters syndrom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
anden kønskromosomanomali Associated morphology False Alteration of chromosome structure Inferred relationship Some
kønskromosommosaicisme, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
anden kønskromosomabnormitet, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
kønskromosomanomali, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
kromosomale anomalier, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
mosaicisme, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
ekstra kromosom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
deletion af kromosom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
tilstand forårsaget af anomali af uspecificeret kromosom, ikke nærmere specificeret 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
Aneuploidi, ikke klassificeret andetsteds Associated morphology False Alteration of chromosome structure Inferred relationship Some
Downs syndrom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
Edwards syndrom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
Pataus syndrom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turners syndrom, ikke klassificeret andetsteds Associated morphology False Alteration of chromosome structure Inferred relationship Some
Bonnevie-Ullrichs syndrom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balancerede ombytninger og strukturelle markører, ikke klassificeret andetsteds Associated morphology False Alteration of chromosome structure Inferred relationship Some
Andre specificerede tilstande forårsaget af autosomale anomalier Associated morphology False Alteration of chromosome structure Inferred relationship Some
Uspecificerede tilstande forårsaget af autosomale anomalier Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turners fænotype, andre variante karyotyper Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turners syndrom, ikke nærmere specificeret Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anden specificeret kønskromosomabnormitet 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-Killians syndrom 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
Strålingskimære 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 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 (disorder) 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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