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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
Alteration of centromere (morphologic abnormality) Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Abnormal chromosomal banding (morphologic abnormality) Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Dicentric chromosome Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Isochromosome for long arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome fragment Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Lengthening of short arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromatid break Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Tricentric chromosome Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromatolysis Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Philadelphia chromosome, Ph^1^, present Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of short arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Paracentric inversion Is a False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Lengthening of long arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome inversion Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Pericentric inversion (morphologic abnormality) Is a False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Philadelphia chromosome, Ph^1^, absent Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Acentric chromosome Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Isochromosome for short arm Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome break Is a True Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Triploidy, diploidy, mixoploidy syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Four X syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
13q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 21- meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 13, meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 18 - meiotic nondisjunction (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy and deletion from autosome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion seen only at prometaphase Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome monosomy - meiotic nondisjunction (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy 21, mosaicism (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Major partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Minor partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Duplication seen only at prometaphase (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Duplication with other complex rearrangement Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Extra marker chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome inversion in normal individual Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Balanced autosomal rearrangement in abnormal individual Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Individual with marker heterochromatin (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Individual with autosomal fragile site (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Karyotype 46, X iso (Xq) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter syndrome, male with 46,XX karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chimera 46, XX; 46, XY Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
cariotype 46 XX de type hermaphrodisme Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
21q partial distal trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
21q partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
8q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion. Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome X Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Unbalanced translocation and insertion (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy 21 in Down's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy 18 in Edward's syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy 13 in Patau's syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome trisomy meiotic nondisjunction (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome trisomy - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Triploidy and polyploidy Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of autosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Balanced rearrangement and structural marker (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Balanced translocation and insertion in normal individual Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome abnormality - female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Turner's phenotype - ring chromosome karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Female with more than three X chromosomes (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Mosaicism - lines with various numbers of X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome abnormality - male phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Male with structurally abnormal sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Male with sex chromosome mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
fraxa Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
fraxe Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome replaced with ring or dicentric Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Klinefelter's syndrome - male with more than two X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy and partial trisomy of autosome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Deletion with complex rearrangement Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Mosaicism 45, X; 46, XX Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Gynandromorphism 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) 1
Chromosomal alterations of group A Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group B Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group C and X Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group D Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group E (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group F Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group G and Y Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 3 (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
12p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
20q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
21q partial monosomy syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 15 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 13 Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
14q partial distal trisomy syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 14 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
A male with two or more X chromosomes. Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)
9q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Existential restriction modifier (core metadata concept)

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