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

2803021000005114 Kromosomstruktur da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome structure	Is a	Subcellular structure	true	Inferred relationship	Some
Chromosome structure	del af	Cell	false	Inferred relationship	Some
Chromosome structure	del af	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
Andre specificerede tilstande forårsaget af autosomale anomalier	Finding site	False	Chromosome structure	Inferred relationship	Some	1
anden deletion af en del af et kromosom, ikke nærmere specificeret	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	Finding site	False	Chromosome structure	Inferred relationship	Some	1
deletioner med andre komplekse rearrangementer	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Balancerede ombytninger og strukturelle markører, ikke klassificeret andetsteds	Finding site	False	Chromosome structure	Inferred relationship	Some	1
andre deletioner fra autosomerne	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Kromosom erstattet af ring eller dicentrisk	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
monosomi af helt kromosom, mosaicisme, ikke nærmere specificeret	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Individual with autosomal fragile site	Finding site	False	Chromosome structure	Inferred relationship	Some	1
kromosomale anomalier, ikke nærmere specificeret	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
Anden specificeret kønskromosomabnormitet	Finding site	False	Chromosome structure	Inferred relationship	Some	1
trisomier af autosomer, ikke klassificeret andetsteds	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Uspecificerede tilstande forårsaget af autosomale anomalier	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	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	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
Kromosom erstattet af ring eller dicentrisk	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	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 ægte hermafrodit	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Congenital disorder due to abnormality of chromosome number OR structure (disorder)	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
Strålingskimære	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	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 (disorder)	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
total trisomi, mitotisk non-disjunktion	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-Killians syndrom	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
Disease with characteristics of intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck and large low set ears.	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
familliær amyloid polyneuropati, type V	Finding site	False	Chromosome structure	Inferred relationship	Some	2
dystrophia corneae latticis type 2	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	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
mistanke om cystisk fibrose hos foster	Finding site	False	Chromosome structure	Inferred relationship	Some
foster med kromosomabnormitet med prænatalt problem	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Individual with marker heterochromatin	Finding site	True	Chromosome structure	Inferred relationship	Some	1
foster med kromosomabnormitet, barn født	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
2803021000005114	Kromosomstruktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)