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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
9q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
11p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 14 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 10 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
13q partial monosomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 17 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 2 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
7q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Sex phenotype-karyotype dissociation syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 7 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 12 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Turner syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
XXXXY syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
18p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Penta X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 6 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
16q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 8 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
11q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
10p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
17q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
4p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 9 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Double Y syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 18 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 20 syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 16 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
13p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 5 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 18 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 11 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
triploïdie Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 8 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 21 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
15q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 22 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 22 syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
polyploïdie Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
10q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
5p partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Partial tetrasomy of chromosome 9 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chromosomal disease Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 9 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
XX males Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 1 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
19q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Angelman syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 16 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
3p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
9p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
8p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 10 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
XXXY syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete monosomy 21 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 19 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome Y Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
XY females Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
14q partial proximal trisomy syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
6p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 4 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
4q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
3q partial trisomy syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 20 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Antimongolism syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 13 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Balanced autosomal translocation (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome trisomy syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 6 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 7 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 8 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 9 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 10 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 11 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 12 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 22 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome trisomy, meitotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome trisomy, mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy syndromes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Turner's phenotype, karyotype normal (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
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)

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