41669009: verandering van chromosoomstructuur (afwijkende morfologie)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Cellular AND/OR subcellular abnormality\Chromosomal morphology\Alteration of chromosome structure

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
XY, female phenotype	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelter's syndrome, XY/XXY mosaic	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Additional sex chromosome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Sex chromosome mosaicism (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Mosaic XO/XY	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Mosaic XO/XX	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Mosaic XY/XXY	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Mosaic including XXXXY	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Duplication of chromosome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Absence of sex chromosome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Pseudotrisomy 18	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Autosomal deletion - mosaicism	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Turner's phenotype, partial X deletion karyotype	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Deletion of long arm of chromosome 18	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Deletion of short arm of chromosome 18	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelter's syndrome XXXY	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelter's syndrome XXXXY	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other deletions of part of a chromosome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other deletion of part of a chromosome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Deletions with other complex rearrangements	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Whole chromosome monosomy, mosaicism NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other deletions from the autosomes	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Monosomies and deletions from the autosomes NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other condition due to autosomal anomaly	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other trisomy C syndromes	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other specified whole chromosome trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Whole chromosome trisomy syndrome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Partial trisomy syndrome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomies of autosomes NEC	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Trisomy of autosomes NEC NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Balanced rearrangement or structural marker NEC NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelter's syndrome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other sex chromosome anomaly	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Sex chromosome mosaicism NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other sex chromosome abnormality NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Sex chromosome anomaly NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Chromosomal anomalies NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Mosaicism NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Additional chromosome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Deletion of chromosome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Conditions due to anomaly of unspecified chromosome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Chromosomal abnormalities, not elsewhere classified	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other specified trisomies and partial trisomies of autosomes	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other deletions of part of a chromosome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other deletions from the autosomes	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other balanced rearrangements and structural markers	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Balanced rearrangement and structural marker, unspecified	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other variants of Turner's syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other specified sex chromosome abnormalities, female phenotype	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other male with 46,XX karyotype	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other specified sex chromosome abnormalities, male phenotype	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Other specified chromosome abnormalities	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
[X]Sex chromosome abnormality, male phenotype, unspecified	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Aneuploidy NEC	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Down's syndrome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Edward's syndrome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Patau's syndrome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Ovarian dwarfism NEC	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Bonnevie-Ullrich syndrome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Balanced rearrangements and structural markers NEC	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other specified conditions due to autosomal anomalies	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Unspecified conditions due to autosomal anomalies	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Turner's phenotype, other variant karyotypes	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Turner's syndrome NOS	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Other specified sex chromosome anomaly	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
22q partial monosomy (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Translocation Down syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Pallister-Killian syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Aplasia cutis in Trisomy 13 syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
XXYY syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Poly Y syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Isologous chimera	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Chimera	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
chimaera door straling	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Heterologous chimera	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Homologous chimera	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelter's syndrome, XXY (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelter's syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Group chromosomal alteration	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Chromosomal alterations of group A	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Chromosomal alterations of group D	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Chromosomal alterations of group C and X	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Chromosomal alterations of group E (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Chromosomal alterations of group F	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Chromosomal alterations of group B	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Chromosomal alterations of group G and Y	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	2
Klinefelter syndrome	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	2
Klinefelter's syndrome XXXY	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	2
Klinefelter's syndrome XXXXY	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	2
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	2
Klinefelter's syndrome, XY/XXY mosaic	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	2
Partial chromosome Y deletion (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	1
Recombinant chromosome 8 syndrome (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
8p inverted duplication deletion syndrome (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Isodicentric chromosome 15 syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	1
Uniparental disomy (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Uniparental disomy of maternal origin (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1

Start Previous Page 3 of 4 End

This concept is not in any reference sets

Back to Start

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
69510019	Alteration of chromosome structure, NOS	en	Synonym (core metadata concept)	Inactive	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
1225871000146114	verandering van chromosomale structuur	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1225881000146111	verandering van chromosoomstructuur	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1225891000146113	verandering van chromosoomstructuur (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)