FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

312237004: Chromosome structure (cell 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
708887011 Chromosome structure (body structure) en Fully specified name Inactive Only initial character 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
1342641000052119 kromosom, struktur sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

41 descendants. Search Descendants:

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 av Cell structure false Inferred relationship Some
Chromosome structure del av Entire body as a whole false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Whole chromosome (cell structure) Is a True Chromosome structure Inferred relationship Some
Short arm of chromosome Is a True Chromosome structure Inferred relationship Some
Sex chromosome structure Is a True Chromosome structure Inferred relationship Some
Long arm of chromosome Is a True Chromosome structure Inferred relationship Some
Centromere Is a True Chromosome structure Inferred relationship Some
Chromatid Is a True Chromosome structure Inferred relationship Some
Chromosome Is a True Chromosome structure Inferred relationship Some
Triploidy, diploidy, mixoploidy 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
Deletion seen only at prometaphase Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome monosomy - meiotic nondisjunction (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Monosomy 21, mosaicism Finding site False Chromosome structure Inferred relationship Some 1
Major partial trisomy Finding site False Chromosome structure Inferred relationship Some 1
Minor partial trisomy Finding site False Chromosome structure Inferred relationship Some 1
Duplication seen only at prometaphase Finding site False Chromosome structure Inferred relationship Some 1
Duplication with other complex rearrangement Finding site False Chromosome structure Inferred relationship Some 1
kromosomer med extra markör Finding site False Chromosome structure Inferred relationship Some 1
Chromosome inversion in normal individual Finding site False Chromosome structure Inferred relationship Some 1
Balanced autosomal rearrangement in abnormal individual Finding site False Chromosome structure Inferred relationship Some 1
Balanced sex/autosomal rearrangement in abnormal individual Finding site False Chromosome structure Inferred relationship Some 1
Individual with marker heterochromatin Finding site False Chromosome structure Inferred relationship Some 1
individ med autosomal fragile site Finding site False Chromosome structure Inferred relationship Some 1
Chimera 46, XX; 46, XY (disorder) Finding site False Chromosome structure Inferred relationship Some 1
46,XX äkta hermafrodit Finding site False Chromosome structure Inferred relationship Some 1
Unbalanced translocation and insertion Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy meiotic nondisjunction (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy - mitotic nondisjunction mosaicism Finding site False Chromosome structure Inferred relationship Some 1
Triploidy and polyploidy Finding site False Chromosome structure Inferred relationship Some 1
Deletion of part of autosome Finding site False Chromosome structure Inferred relationship Some 1
Balanced rearrangement and structural marker (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Balanced translocation and insertion in normal individual Finding site False Chromosome structure Inferred relationship Some 1
kromosom ersatt av ring- eller dicentrisk kromosom Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Trisomy and partial trisomy of autosome Finding site False Chromosome structure Inferred relationship Some 1
Deletion with complex rearrangement (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal disorder (disorder) Finding site False Chromosome structure Inferred relationship Some
Group chromosomal alteration Finding site False Chromosome structure Inferred relationship Some 2
Chromosomal alterations of group A Finding site False Chromosome structure Inferred relationship Some 2
Chromosomal alterations of group B Finding site False Chromosome structure Inferred relationship Some 2
Chromosomal alterations of group C and X Finding site False Chromosome structure Inferred relationship Some 2
Chromosomal alterations of group D Finding site False Chromosome structure Inferred relationship Some 2
Chromosomal alterations of group E (disorder) Finding site False Chromosome structure Inferred relationship Some 2
Chromosomal alterations of group F Finding site False Chromosome structure Inferred relationship Some 2
Chromosomal alterations of group G and Y Finding site False Chromosome structure Inferred relationship Some 2
Isologous chimera Finding site False Chromosome structure Inferred relationship Some 1
Chimera Finding site False Chromosome structure Inferred relationship Some 1
Radiation chimera 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
Homologous chimera Finding site False Chromosome structure Inferred relationship Some 1
Triploidy syndrome Finding site False Chromosome structure Inferred relationship Some 1
Polyploidy syndrome Finding site False Chromosome structure Inferred relationship Some 1
Congenital chromosomal disease Finding site False Chromosome structure Inferred relationship Some 1
Antimongolism syndrome Finding site False Chromosome structure Inferred relationship Some 1
Deletion of long arm of chromosome 13 Finding site False Chromosome structure Inferred relationship Some 1
balanserad autosomal translokation Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy syndrome Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 6 Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 7 Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 8 Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 9 Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 10 (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 11 Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 12 Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 22 Finding site False Chromosome structure Inferred relationship Some 1
trisomi för hel kromosom, meiotisk icke-disjunktion Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy, mosaicism Finding site False Chromosome structure Inferred relationship Some 1
Partial trisomy syndromes Finding site False Chromosome structure Inferred relationship Some 1
Duplication of chromosome Finding site False Chromosome structure Inferred relationship Some 1
Absence of sex chromosome Finding site False Chromosome structure Inferred relationship Some 1
Pseudotrisomy 18 Finding site False Chromosome structure Inferred relationship Some 1
Autosomal deletion - mosaicism Finding site False Chromosome structure Inferred relationship Some 1
Deletion of long arm of chromosome 18 Finding site False Chromosome structure Inferred relationship Some 1
Deletion of short arm of chromosome 18 Finding site False Chromosome structure Inferred relationship Some 1
Other deletions of part of a chromosome 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
Deletions with other complex rearrangements Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome monosomy, mosaicism NOS Finding site False Chromosome structure Inferred relationship Some 1
Other deletions from the autosomes Finding site False Chromosome structure Inferred relationship Some 1
Monosomies and deletions from the autosomes NOS Finding site False Chromosome structure Inferred relationship Some 1
Other condition due to autosomal anomaly Finding site False Chromosome structure Inferred relationship Some 1
Other trisomy C syndromes Finding site False Chromosome structure Inferred relationship Some 1
Other specified whole chromosome trisomy syndrome Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy syndrome NOS Finding site False Chromosome structure Inferred relationship Some 1
Partial trisomy syndrome NOS Finding site False Chromosome structure Inferred relationship Some 1
Trisomies of autosomes NEC Finding site False Chromosome structure Inferred relationship Some 1
Trisomy of autosomes NEC NOS Finding site False Chromosome structure Inferred relationship Some 1
Balanced rearrangement or structural marker NEC NOS Finding site False Chromosome structure Inferred relationship Some 1
Other sex chromosome anomaly Finding site False Chromosome structure Inferred relationship Some 1
Other sex chromosome abnormality NOS Finding site False Chromosome structure Inferred relationship Some 1
Sex chromosome anomaly NOS Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal anomalies NOS Finding site False Chromosome structure Inferred relationship Some 1
Mosaicism NOS Finding site False Chromosome structure Inferred relationship Some 1
Additional chromosome NOS Finding site False Chromosome structure Inferred relationship Some 1
Deletion of chromosome NOS Finding site False Chromosome structure Inferred relationship Some 1
Conditions due to anomaly of unspecified chromosome NOS Finding site False Chromosome structure Inferred relationship Some 1
[X]Chromosomal abnormalities, not elsewhere classified 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
[X]Other deletions of part of a chromosome Finding site False Chromosome structure Inferred relationship Some 1
[X]Other deletions from the autosomes Finding site False Chromosome structure Inferred relationship Some 1
[X]Other balanced rearrangements and structural markers Finding site False Chromosome structure Inferred relationship Some 1

Page 1 of 4 Next End

Reference Sets

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

Back to Start