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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 est un(e) (attribut) Chromosomal morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Deletion of long arm of chromosome 18 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Deletion of short arm of chromosome 18 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome XXXY morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome XXXXY morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Maternal uniparental disomy of chromosome 16 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Other deletions of part of a chromosome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other deletion of part of a chromosome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Deletions with other complex rearrangements morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Whole chromosome monosomy, mosaicism NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other deletions from the autosomes morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Monosomies and deletions from the autosomes NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other condition due to autosomal anomaly morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other trisomy C syndromes morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other specified whole chromosome trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy syndrome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Partial trisomy syndrome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomies of autosomes NEC morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy of autosomes NEC NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Balanced rearrangement or structural marker NEC NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other sex chromosome anomaly morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Sex chromosome mosaicism NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other sex chromosome abnormality NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Sex chromosome anomaly NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Chromosomal anomalies NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Mosaicism NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Additional chromosome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Deletion of chromosome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Conditions due to anomaly of unspecified chromosome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Chromosomal abnormalities, not elsewhere classified (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other specified trisomies and partial trisomies of autosomes morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other deletions of part of a chromosome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other deletions from the autosomes morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other balanced rearrangements and structural markers morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Balanced rearrangement and structural marker, unspecified morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other variants of Turner's syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other specified sex chromosome abnormalities, female phenotype morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other male with 46,XX karyotype morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other specified sex chromosome abnormalities, male phenotype morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Other specified chromosome abnormalities morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
[X]Sex chromosome abnormality, male phenotype, unspecified morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Aneuploidy NEC morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Down's syndrome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Edward's syndrome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Patau's syndrome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Ovarian dwarfism NEC morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Bonnevie-Ullrich syndrome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Balanced rearrangements and structural markers NEC morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other specified conditions due to autosomal anomalies morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Unspecified conditions due to autosomal anomalies morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype, other variant karyotypes morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Turner's syndrome NOS morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Other specified sex chromosome anomaly morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Maternal uniparental disomy of chromosome 21 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 22 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Mosaic genome-wide paternal uniparental disomy morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome X morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome X (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 15 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 11 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 14 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Maternal uniparental disomy of chromosome 7 (disorder) morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 4 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 15 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 14 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Paternal uniparental disomy of chromosome 11 morphologie associée (attribut) True Alteration of chromosome structure Inferred relationship Some 1
Alteration of centromere est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Abnormal chromosomal banding est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
22q partial monosomy (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Translocation Down syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Dicentric chromosome est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Isochromosome for long arm est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Ring chromosome est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Chromosome fragment est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Pallister-Killian syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Lengthening of short arm est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Chromatid break est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Tricentric chromosome est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Aplasia cutis in Trisomy 13 syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Autosomal chromosomal disorder (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
XXYY syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Poly Y syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Chromatolysis (morphologic abnormality) est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Isologous chimera morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Chimera morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
chimère postirradiation morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Heterologous chimera morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Homologous chimera morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome, XXY (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Deletion of long arm est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Philadelphia chromosome, Ph^1^, present est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Deletion of short arm est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Paracentric inversion est un(e) (attribut) False Alteration of chromosome structure Inferred relationship Some
Lengthening of long arm est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Chromosome inversion est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Pericentric inversion est un(e) (attribut) False Alteration of chromosome structure Inferred relationship Some
Philadelphia chromosome, Ph^1^, absent est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Acentric chromosome est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Isochromosome for short arm est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some
Chromosome break est un(e) (attribut) True Alteration of chromosome structure Inferred relationship Some

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