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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
69509012 Alteration of chromosome structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
XY, female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome, XXYY (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome, XY/XXY mosaic Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Additional sex chromosome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome mosaicism (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic XO/XY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic XO/XX Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic XY/XXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic including XXXXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Duplication of chromosome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Absence of sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Pseudotrisomy 18 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal deletion - mosaicism (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Turner's phenotype, partial X deletion karyotype (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 18 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of short arm of chromosome 18 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome XXXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome XXXXY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other deletions of part of a chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other deletion of part of a chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletions with other complex rearrangements Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome monosomy, mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other deletions from the autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Monosomies and deletions from the autosomes NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other condition due to autosomal anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other trisomy C syndromes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other specified whole chromosome trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome trisomy syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomies of autosomes NEC Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy of autosomes NEC NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Balanced rearrangement or structural marker NEC NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other sex chromosome anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other sex chromosome abnormality NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome anomaly NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal anomalies NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Mosaicism NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Additional chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Conditions due to anomaly of unspecified chromosome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Chromosomal abnormalities, not elsewhere classified Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified trisomies and partial trisomies of autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other deletions of part of a chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other deletions from the autosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other balanced rearrangements and structural markers Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Balanced rearrangement and structural marker, unspecified Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other variants of Turner's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other male with 46,XX karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified sex chromosome abnormalities, male phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified chromosome abnormalities Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
[X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Aneuploidy NEC Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Down's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Edward's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Patau's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Ovarian dwarfism NEC Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Bonnevie-Ullrich syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Balanced rearrangements and structural markers NEC Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other specified conditions due to autosomal anomalies Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Unspecified conditions due to autosomal anomalies Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Turner's phenotype, other variant karyotypes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Turner's syndrome NOS Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Other specified sex chromosome anomaly Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Translocation Down syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Pallister-Killian syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis in Trisomy 13 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal chromosomal disorder (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
XXYY syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Poly Y syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Isologous chimera Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chimera (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
chimère postirradiation Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Heterologous chimera (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Homologous chimera (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome, XXY (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Group chromosomal alteration Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group A Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group D Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group C and X Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group E (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group F Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group B Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group G and Y Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A male with two or more X chromosomes. Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Klinefelter's syndrome, XXY (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Klinefelter's syndrome XXXY Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Klinefelter's syndrome XXXXY Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Klinefelter's syndrome, XXYY (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Klinefelter's syndrome, XY/XXY mosaic Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial chromosome Y deletion (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Recombinant chromosome 8 syndrome (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Isodicentric chromosome 15 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Uniparental disomy (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Uniparental disomy of maternal origin (disorder) Associated morphology True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1

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