312237004: Chromosome structure (cell structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure

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

455916012 Chromosome structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1187856012 Chromosome structure (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome structure	Is a	Subcellular structure	true	Inferred relationship	Some
Chromosome structure	Part of	Cell	false	Inferred relationship	Some
Chromosome structure	Part of	Entire body as a whole	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Monosomy 21, mosaicism	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Other specified conditions due to autosomal anomalies	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Other deletion of part of a chromosome NOS	Finding site	False	Chromosome structure	Inferred relationship	Some	1
[X]Townes-Brocks syndrome	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Monosomy and deletion from autosome (disorder)	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Deletions with other complex rearrangements	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Balanced rearrangements and structural markers NEC	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Other deletions from the autosomes	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Chromosome replaced with ring or dicentric	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group G and Y	Finding site	False	Chromosome structure	Inferred relationship	Some	2
[X]Chromosomal abnormalities, not elsewhere classified	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Whole chromosome monosomy, mosaicism NOS	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Individual with autosomal fragile site	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Chromosomal anomalies NOS	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Trisomy 11	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Heterologous chimera	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Fragile X syndrome	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Other specified sex chromosome anomaly	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Trisomies of autosomes NEC	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Unspecified conditions due to autosomal anomalies	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Balanced autosomal translocation	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group B	Finding site	False	Chromosome structure	Inferred relationship	Some	2
Whole chromosome trisomy syndrome	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Partial trisomy syndromes	Finding site	False	Chromosome structure	Inferred relationship	Some	1
[X]Other deletions of part of a chromosome	Finding site	False	Chromosome structure	Inferred relationship	Some	1
[X]Balanced rearrangement and structural marker, unspecified	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group E (disorder)	Finding site	False	Chromosome structure	Inferred relationship	Some	2
Triploidy, diploidy, mixoploidy syndrome	Finding site	False	Chromosome structure	Inferred relationship	Some	1
[X]Other specified trisomies and partial trisomies of autosomes	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Major partial trisomy	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Trisomy 10 (disorder)	Finding site	False	Chromosome structure	Inferred relationship	Some	1
XXYY syndrome (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Duplication seen only at prometaphase	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Group chromosomal alteration	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group A	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Mosaic variegated aneuploidy syndrome (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Chromosome replaced with ring or dicentric	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group B	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Triploidy, diploidy, mixoploidy syndrome	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Partial trisomy syndromes	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group E (disorder)	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Whole chromosome trisomy - mitotic nondisjunction mosaicism	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group D	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group G and Y	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Homologous chimera	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Triploidy and polyploidy	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Pseudotrisomy 18	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Trisomy 7	Finding site	False	Chromosome structure	Inferred relationship	Some	1
46, XX true hermaphrodite	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Congenital chromosomal disease	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Duplication with other complex rearrangement	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Trisomy 6	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Isologous chimera	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Trisomy 22	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Radiation chimera	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Heterologous chimera	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Chimera	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Chimera 46, XX; 46, XY (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Minor partial trisomy	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group F	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Trisomy 11	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Chromosomal alterations of group C and X	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Trisomy 9	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Whole chromosome trisomy, meiotic nondisjunction	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Triploidy syndrome	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Polyploidy syndrome	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Pallister-Killian syndrome	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Whole chromosome trisomy syndrome	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Whole chromosome trisomy meiotic nondisjunction (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Trisomy 8	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Trisomy 12	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	Finding site	False	Chromosome structure	Inferred relationship	Some	2
Emanuel syndrome	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Fragile X syndrome	Finding site	False	Chromosome structure	Inferred relationship	Some	2
Meretoja syndrome	Finding site	False	Chromosome structure	Inferred relationship	Some	2
Lattice corneal dystrophy Type II	Finding site	False	Chromosome structure	Inferred relationship	Some	2
Familial extra unidentified structurally abnormal chromosome (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Fetus with chromosomal abnormality	Finding site	False	Chromosome structure	Inferred relationship	Some	2
Macular corneal dystrophy	Finding site	False	Chromosome structure	Inferred relationship	Some
Balanced autosomal rearrangement in abnormal individual	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Autosomal chromosomal disorder (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Chromosomal disorder (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Balanced rearrangement and structural marker (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Congenital macular corneal dystrophy	Finding site	False	Chromosome structure	Inferred relationship	Some
Lattice corneal dystrophy, isolated form	Finding site	False	Chromosome structure	Inferred relationship	Some
Gelatinous droplike corneal dystrophy (disorder)	Finding site	False	Chromosome structure	Inferred relationship	Some	3
Unbalanced translocation and insertion	Finding site	True	Chromosome structure	Inferred relationship	Some	2
Individual with autosomal fragile site	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Extra unidentified structurally abnormal chromosome (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Duplication of chromosome	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Unbalanced translocation of chromosome (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	2
Balanced translocation and insertion in normal individual	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Macular corneal dystrophy Type I (disorder)	Finding site	False	Chromosome structure	Inferred relationship	Some
Suspect cystic fibrosis fetus	Finding site	False	Chromosome structure	Inferred relationship	Some
Fetus with chromosomal abnormality with antenatal problem	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Individual with marker heterochromatin	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Fetus with chromosomal abnormality - delivered	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Macular corneal dystrophy Type II (disorder)	Finding site	False	Chromosome structure	Inferred relationship	Some
Autosomal aneuploidy (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	2

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
455916012	Chromosome structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1187856012	Chromosome structure (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core