41669009: Alteration of chromosome structure (morphologic abnormality)

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
Alteration of centromere	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	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
Four X syndrome	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 (disorder)	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 (disorder)	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 (disorder)	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
kromosomer med extra markör	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
individ med 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
mosaikism 45, X/annan cellinje med avvikande könskromosom	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 (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
46, XX true hermaphrodite	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
20p partial trisomy syndrome	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 (disorder)	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 (disorder)	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
kromosom ersatt av ring- eller dicentrisk kromosom	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelters syndrom	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder)	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 (disorder)	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	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group E (disorder)	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
14q partial distal trisomy syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Complete trisomy 13 syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
komplett trisomi 14-syndrom	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
Klinefelter syndrome	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some
9q partial trisomy syndrome (disorder)	Associated morphology	False	Alteration of chromosome structure	Inferred relationship	Some

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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
98811000052112	förändring av kromosomstruktur	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)