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
[X]Other balanced rearrangements and structural markers 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
[X]Other specified chromosome abnormalities Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Aneuploidy NEC 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 specified conditions due to autosomal anomalies 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
Other specified sex chromosome anomaly Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Pallister-Killian syndrome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Autosomal chromosomal disorder Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
XXYY syndrome 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
Lattice corneal dystrophy, isolated form Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Macular corneal dystrophy Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Congenital macular corneal dystrophy Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Lattice corneal dystrophy Type II Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Meretoja syndrome Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Macular corneal dystrophy Type I Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Macular corneal dystrophy Type II Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Gelatinous droplike corneal dystrophy Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Schnyder crystalline corneal dystrophy Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Ullrich-Feichtiger syndrome, chimera Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Autosomal duplication Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Autosomal aneuploidy Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Autosomal chromosomal disorder Finding site False Chromosome structure Inferred relationship Existential restriction modifier
Duplication of chromosome Finding site False Chromosome structure Inferred relationship Existential restriction modifier
[X]Other specified chromosome abnormalities Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Sex chromosome anomaly NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
[X]Other deletions from the autosomes Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Other sex chromosome abnormality NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Group chromosomal alteration Finding site False Chromosome structure Inferred relationship Existential restriction modifier 2
Balanced rearrangement or structural marker NEC NOS 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
Extra marker chromosomes Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Additional chromosome NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Pseudotrisomy 18 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 2
Chimera 46, XX; 46, XY Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Deletion of chromosome NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Autosomal deletion - mosaicism Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Mosaicism NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Other sex chromosome anomaly Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Whole chromosome monosomy - mitotic nondisjunction mosaicism Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Chimera Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
[X]Other balanced rearrangements and structural markers Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Duplication with other complex rearrangement Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Minor partial trisomy Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Duplication seen only at prometaphase Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Ullrich-Feichtiger syndrome, chimera Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Partial trisomy syndrome NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Whole chromosome trisomy syndrome NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Individual with marker heterochromatin Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Trisomy and partial trisomy of autosome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Balanced sex/autosomal rearrangement in abnormal individual Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Chromosome inversion in normal individual Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Balanced autosomal rearrangement in abnormal individual Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Trisomy of autosomes NEC NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Triploidy syndrome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Trisomy 10 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Whole chromosome trisomy, mosaicism Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Trisomy 22 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
Homologous chimera Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Trisomy 9 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Trisomy 12 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Deletion with complex rearrangement Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group D Finding site False Chromosome structure Inferred relationship Existential restriction modifier 2
Chromosomal alterations of group C and X Finding site False Chromosome structure Inferred relationship Existential restriction modifier 2
Trisomy 7 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Pallister-Killian syndrome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Trisomy 8 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Trisomy 6 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Isologous chimera Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
XXYY syndrome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Polyploidy syndrome 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
Autosomal aneuploidy Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Deletion of long arm of chromosome 18 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Other deletions of part of a chromosome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Whole chromosome trisomy - mitotic nondisjunction mosaicism Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Triploidy and polyploidy Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Balanced translocation and insertion in normal individual Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Other trisomy C syndromes Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Other specified whole chromosome trisomy syndrome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Monosomies and deletions from the autosomes NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Balanced rearrangement and structural marker Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Other condition due to autosomal anomaly Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Aneuploidy NEC Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Deletion of short arm of chromosome 18 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Antimongolism syndrome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Congenital disorder due to abnormality of chromosome number OR structure Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Unbalanced translocation and insertion Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Deletion seen only at prometaphase Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Deletion of part of autosome Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Deletion of long arm of chromosome 13 Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Whole chromosome monosomy - meiotic nondisjunction Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Conditions due to anomaly of unspecified chromosome NOS Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Major partial trisomy Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group F Finding site False Chromosome structure Inferred relationship Existential restriction modifier 2
Radiation chimera Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1
Monosomy 21, mosaicism Finding site False Chromosome structure Inferred relationship Existential restriction modifier 1

Start Page 2 of 4 Next End

This concept is not in any reference sets

Back to Start