FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

312237004: Chromosome structure (cell structure)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

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

Start Previous Page 3 of 4 End

This concept is not in any reference sets

Back to Start