FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  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
1187856012 Chromosome structure (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
455916012 Chromosome structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1187856012 Chromosome structure (cell structure) en Fully specified name Active 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

41 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome structure (cell structure) Is a Subcellular structure true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome structure (cell structure) partie de Cell false Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome structure (cell structure) partie de Entire body as a whole (body structure) false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Whole chromosome Is a True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Short arm of chromosome Is a True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome structure (cell structure) Is a True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Long arm of chromosome (cell structure) Is a True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Centromere Is a True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Chromatid Is a True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Is a True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Triploidy, diploidy, mixoploidy syndrome (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy and deletion from autosome (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion seen only at prometaphase Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome monosomy - meiotic nondisjunction (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 21, mosaicism (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Major partial trisomy Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Minor partial trisomy (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication seen only at prometaphase (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication with other complex rearrangement Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Extra marker chromosomes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome inversion in normal individual Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced autosomal rearrangement in abnormal individual Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced sex/autosomal rearrangement in abnormal individual Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Individual with marker heterochromatin (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Individual with autosomal fragile site (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chimera 46, XX; 46, XY Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
cariotype 46 XX de type hermaphrodisme Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Unbalanced translocation and insertion (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy meiotic nondisjunction (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy - mitotic nondisjunction mosaicism Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Triploidy and polyploidy Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of autosome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced rearrangement and structural marker (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced translocation and insertion in normal individual Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome replaced with ring or dicentric Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome monosomy - mitotic nondisjunction mosaicism Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy and partial trisomy of autosome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion with complex rearrangement Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal disorder (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Group chromosomal alteration Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group A Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group B Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group C and X Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group D Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group E (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group F Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosomal alterations of group G and Y Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Isologous chimera Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chimera (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
chimère postirradiation Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Heterologous chimera (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fragile X syndrome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Homologous chimera (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
triploïdie Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
polyploïdie Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chromosomal disease Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Antimongolism syndrome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced autosomal translocation (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy syndrome (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 6 Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 7 Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 8 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 9 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 10 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 11 Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 22 Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy, meitotic nondisjunction Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy, mosaicism Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy syndromes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of chromosome (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absence of sex chromosome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudotrisomy 18 Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal deletion - mosaicism (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of short arm of chromosome 18 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other deletions of part of a chromosome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other deletion of part of a chromosome NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletions with other complex rearrangements Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome monosomy, mosaicism NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other deletions from the autosomes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomies and deletions from the autosomes NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other condition due to autosomal anomaly Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other trisomy C syndromes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other specified whole chromosome trisomy syndrome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy syndrome NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy syndrome NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomies of autosomes NEC Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy of autosomes NEC NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced rearrangement or structural marker NEC NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other sex chromosome anomaly Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other sex chromosome abnormality NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Sex chromosome anomaly NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal anomalies NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaicism NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Additional chromosome NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of chromosome NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Conditions due to anomaly of unspecified chromosome NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Chromosomal abnormalities, not elsewhere classified Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Other specified trisomies and partial trisomies of autosomes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Other deletions of part of a chromosome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Other deletions from the autosomes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Other balanced rearrangements and structural markers Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1

Page 1 of 4 Next End

Reference Sets

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

Back to Start