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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
Alteration of centromere (morphologic abnormality) Is a True Alteration of chromosome structure Inferred relationship Some
Abnormal chromosomal banding Is a True Alteration of chromosome structure Inferred relationship Some
Dicentric chromosome Is a True Alteration of chromosome structure Inferred relationship Some
Isochromosome for long arm Is a True Alteration of chromosome structure Inferred relationship Some
Ring chromosome Is a True Alteration of chromosome structure Inferred relationship Some
Chromosome fragment Is a True Alteration of chromosome structure Inferred relationship Some
Lengthening of short arm Is a True Alteration of chromosome structure Inferred relationship Some
Chromatid break Is a True Alteration of chromosome structure Inferred relationship Some
Tricentric chromosome Is a True Alteration of chromosome structure Inferred relationship Some
Chromatolysis (morphologic abnormality) Is a True Alteration of chromosome structure Inferred relationship Some
Deletion of long arm Is a True Alteration of chromosome structure Inferred relationship Some
Philadelphia chromosome, Ph^1^, present Is a True Alteration of chromosome structure Inferred relationship Some
Deletion of short arm Is a True Alteration of chromosome structure Inferred relationship Some
Paracentric inversion Is a False Alteration of chromosome structure Inferred relationship Some
Lengthening of long arm Is a True Alteration of chromosome structure Inferred relationship Some
Chromosome inversion Is a True Alteration of chromosome structure Inferred relationship Some
Pericentric inversion Is a False Alteration of chromosome structure Inferred relationship Some
Philadelphia chromosome, Ph^1^, absent Is a True Alteration of chromosome structure Inferred relationship Some
Acentric chromosome Is a True Alteration of chromosome structure Inferred relationship Some
Isochromosome for short arm Is a True Alteration of chromosome structure Inferred relationship Some
Chromosome break Is a True Alteration of chromosome structure Inferred relationship Some
Triploidy, diploidy, mixoploidy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. Associated morphology False Alteration of chromosome structure Inferred relationship Some
13q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 21- meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 13, meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 18 - meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Monosomy and deletion from autosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion seen only at prometaphase Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome monosomy - meiotic nondisjunction Associated morphology False Alteration of chromosome structure Inferred relationship Some
Monosomy 21, mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Major partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Some
Minor partial trisomy Associated morphology False Alteration of chromosome structure Inferred relationship Some
Duplication seen only at prometaphase Associated morphology False Alteration of chromosome structure Inferred relationship Some
Duplication with other complex rearrangement Associated morphology False Alteration of chromosome structure Inferred relationship Some
Extra marker chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Chromosome inversion in normal individual Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced autosomal rearrangement in abnormal individual Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False Alteration of chromosome structure Inferred relationship Some
Individual with marker heterochromatin Associated morphology False Alteration of chromosome structure Inferred relationship Some
Individual with autosomal fragile site Associated morphology False Alteration of chromosome structure Inferred relationship Some
Karyotype 46, X iso (Xq) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter syndrome, male with 46,XX karyotype (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Chimera 46, XX; 46, XY Associated morphology False Alteration of chromosome structure Inferred relationship Some
cariotype 46 XX de type hermaphrodisme Associated morphology False Alteration of chromosome structure Inferred relationship Some
Fragile X chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
21q partial distal trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
21q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
8q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome X Associated morphology False Alteration of chromosome structure Inferred relationship Some
Unbalanced translocation and insertion Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial trisomy 21 in Down's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial trisomy 18 in Edward's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Partial trisomy 13 in Patau's syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy meiotic nondisjunction (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Triploidy and polyploidy Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion of part of autosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced rearrangement and structural marker Associated morphology False Alteration of chromosome structure Inferred relationship Some
Balanced translocation and insertion in normal individual Associated morphology False Alteration of chromosome structure Inferred relationship Some
Sex chromosome abnormality - female phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype - ring chromosome karyotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
Female with more than three X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Mosaicism - lines with various numbers of X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Sex chromosome abnormality - male phenotype Associated morphology False Alteration of chromosome structure Inferred relationship Some
Male with structurally abnormal sex chromosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Male with sex chromosome mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
fraxa Associated morphology False Alteration of chromosome structure Inferred relationship Some
fraxe Associated morphology False Alteration of chromosome structure Inferred relationship Some
Chromosome replaced with ring or dicentric Associated morphology False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome - male with more than two X chromosomes Associated morphology False Alteration of chromosome structure Inferred relationship Some
Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Alteration of chromosome structure Inferred relationship Some
Trisomy and partial trisomy of autosome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Deletion with complex rearrangement Associated morphology False Alteration of chromosome structure Inferred relationship Some
Mosaicism 45, X; 46, XX Associated morphology False Alteration of chromosome structure Inferred relationship Some
Gynandromorphism syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Group chromosomal alteration Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group A Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group B Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group C and X Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group D (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group E Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group F Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Chromosomal alterations of group G and Y Associated morphology False Alteration of chromosome structure Inferred relationship Some 1
Anomaly of chromosome pair 3 Associated morphology False Alteration of chromosome structure Inferred relationship Some
12p partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
20q partial trisomy (disorder) Associated morphology False Alteration of chromosome structure Inferred relationship Some
21q partial monosomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 15 Associated morphology False Alteration of chromosome structure Inferred relationship Some
Anomaly of chromosome pair 13 Associated morphology False Alteration of chromosome structure Inferred relationship Some
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 13 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
Complete trisomy 14 syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some
A male with two or more X chromosomes. Associated morphology False Alteration of chromosome structure Inferred relationship Some
9q partial trisomy syndrome Associated morphology False Alteration of chromosome structure Inferred relationship Some

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