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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
9q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal Associated morphology False Alteration of chromosome structure Inferred relationship Some
11p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 14 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 10 Associated morphology False Alteration of chromosome structure Inferred relationship Some
13q partial monosomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 17 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 2 Associated morphology False Alteration of chromosome structure Inferred relationship Some
7q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Sex phenotype-karyotype dissociation syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 7 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 12 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turner syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
XXXXY syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
12q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 21 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
18p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Penta X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 6 Associated morphology False Alteration of chromosome structure Inferred relationship Some
16q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 8 Associated morphology False Alteration of chromosome structure Inferred relationship Some
11q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
10p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
17q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
4p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 9 Associated morphology False Alteration of chromosome structure Inferred relationship Some
A sex chromosome aneuploidy where males receive an additional Y chromosome, and with clinical characteristics of tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. Associated morphology False Alteration of chromosome structure Inferred relationship Some
22q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 18 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
17p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 20 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 16 Associated morphology False Alteration of chromosome structure Inferred relationship Some
13p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
2p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 5 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 18 Associated morphology False Alteration of chromosome structure Inferred relationship Some
2q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 11 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Fragile X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Triploidy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
18q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 8 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 21 Associated morphology False Alteration of chromosome structure Inferred relationship Some
15q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 22 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 22 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Polyploidy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
10q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
5p partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial tetrasomy of chromosome 9 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Congenital chromosomal disease Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 9 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
XX males Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 1 Associated morphology False Alteration of chromosome structure Inferred relationship Some
14q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
19q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
6q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Angelman syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 16 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
3p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
9p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
8p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 10 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
XXXY syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete monosomy 21 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Autosomal recessive ocular albinism Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
1q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 19 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome Y Associated morphology False Alteration of chromosome structure Inferred relationship Some
XY females Associated morphology False Alteration of chromosome structure Inferred relationship Some
7p partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Mixed gonadal dysgenesis Associated morphology False Alteration of chromosome structure Inferred relationship Some
14q partial proximal trisomy syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
6p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 4 Associated morphology False Alteration of chromosome structure Inferred relationship Some
16p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
4q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Prader-Willi syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
3q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 20 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair Associated morphology False Alteration of chromosome structure Inferred relationship Some
Antimongolism syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion of long arm of chromosome 13 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced autosomal translocation Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 6 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 7 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 8 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 9 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 10 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 11 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 12 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 22 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy, meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy, mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial trisomy syndromes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype, karyotype normal Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Alteration of chromosome structure Inferred relationship Some

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