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

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 Part of Cell false Inferred relationship Some
Chromosome structure Part of Entire body as a whole false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
[X]Other balanced rearrangements and structural markers 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
[X]Other specified chromosome abnormalities Finding site False Chromosome structure Inferred relationship Some 1
Aneuploidy NEC Finding site False Chromosome structure Inferred relationship Some 1
Balanced rearrangements and structural markers NEC Finding site False Chromosome structure Inferred relationship Some 1
Other specified conditions due to autosomal anomalies Finding site False Chromosome structure Inferred relationship Some 1
Unspecified conditions due to autosomal anomalies Finding site False Chromosome structure Inferred relationship Some 1
Other specified sex chromosome anomaly Finding site False Chromosome structure Inferred relationship Some 1
Pallister-Killian syndrome Finding site False Chromosome structure Inferred relationship Some 1
Autosomal chromosomal disorder (disorder) Finding site False Chromosome structure Inferred relationship Some 1
XXYY syndrome (disorder) Finding site False Chromosome structure Inferred relationship Some 1
[X]Townes-Brocks syndrome Finding site False Chromosome structure Inferred relationship Some 1
Lattice corneal dystrophy, isolated form Finding site False Chromosome structure Inferred relationship Some
Macular corneal dystrophy Finding site False Chromosome structure Inferred relationship Some
Congenital macular corneal dystrophy Finding site False Chromosome structure Inferred relationship Some
Lattice corneal dystrophy Type II Finding site False Chromosome structure Inferred relationship Some
Meretoja syndrome Finding site False Chromosome structure Inferred relationship Some
Macular corneal dystrophy Type I (disorder) Finding site False Chromosome structure Inferred relationship Some
Macular corneal dystrophy Type II (disorder) Finding site False Chromosome structure Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) Finding site False Chromosome structure Inferred relationship Some
Schnyder crystalline corneal dystrophy Finding site False Chromosome structure Inferred relationship Some
Ullrich-Feichtiger syndrome, chimera Finding site False Chromosome structure Inferred relationship Some 1
Autosomal duplication (disorder) Finding site False Chromosome structure Inferred relationship Some
Autosomal aneuploidy (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Autosomal chromosomal disorder (disorder) Finding site False Chromosome structure Inferred relationship Some
Duplication of chromosome Finding site False Chromosome structure Inferred relationship Some
[X]Other specified chromosome abnormalities Finding site False Chromosome structure Inferred relationship Some 1
Sex chromosome anomaly NOS Finding site False Chromosome structure Inferred relationship Some 1
[X]Other deletions from the autosomes Finding site False Chromosome structure Inferred relationship Some 1
Other sex chromosome abnormality NOS Finding site False Chromosome structure Inferred relationship Some 1
Group chromosomal alteration Finding site False Chromosome structure Inferred relationship Some 2
Balanced rearrangement or structural marker NEC NOS Finding site False Chromosome structure Inferred relationship Some 1
46, XX true hermaphrodite Finding site False Chromosome structure Inferred relationship Some 1
Extra marker chromosomes Finding site False Chromosome structure Inferred relationship Some 1
Additional chromosome NOS Finding site False Chromosome structure Inferred relationship Some 1
Pseudotrisomy 18 Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group A Finding site False Chromosome structure Inferred relationship Some 2
Chimera 46, XX; 46, XY (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Deletion of chromosome NOS Finding site False Chromosome structure Inferred relationship Some 1
Autosomal deletion - mosaicism Finding site False Chromosome structure Inferred relationship Some 1
Mosaicism NOS Finding site False Chromosome structure Inferred relationship Some 1
Other sex chromosome anomaly 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
Chimera 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
Duplication with other complex rearrangement 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
Ullrich-Feichtiger syndrome, chimera Finding site False Chromosome structure Inferred relationship Some 1
Partial trisomy syndrome NOS Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy syndrome NOS Finding site False Chromosome structure Inferred relationship Some 1
Individual with marker heterochromatin Finding site False Chromosome structure Inferred relationship Some 1
Trisomy and partial trisomy of autosome 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
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
Trisomy of autosomes NEC NOS Finding site False Chromosome structure Inferred relationship Some 1
Triploidy syndrome Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 10 (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy, mosaicism Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 22 Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy, meiotic nondisjunction Finding site False Chromosome structure Inferred relationship Some 1
Homologous chimera Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 9 Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 12 Finding site False Chromosome structure Inferred relationship Some 1
Deletion with complex rearrangement (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group D 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
Trisomy 7 Finding site False Chromosome structure Inferred relationship Some 1
Pallister-Killian syndrome Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 8 Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 6 Finding site False Chromosome structure Inferred relationship Some 1
Isologous chimera Finding site False Chromosome structure Inferred relationship Some 1
XXYY syndrome (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Polyploidy syndrome Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy meiotic nondisjunction (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Autosomal aneuploidy (disorder) 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
Other deletions of part of a chromosome 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
Balanced translocation and insertion in normal individual 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
Monosomies and deletions from the autosomes NOS Finding site False Chromosome structure Inferred relationship Some 1
Balanced rearrangement and structural marker (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Other condition due to autosomal anomaly Finding site False Chromosome structure Inferred relationship Some 1
Aneuploidy NEC 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
Antimongolism syndrome Finding site False Chromosome structure Inferred relationship Some 1
Congenital chromosomal disease Finding site False Chromosome structure Inferred relationship Some 1
Unbalanced translocation and insertion Finding site False Chromosome structure Inferred relationship Some 1
Deletion seen only at prometaphase Finding site False Chromosome structure Inferred relationship Some 1
Deletion of part of autosome 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
Whole chromosome monosomy - meiotic nondisjunction (disorder) 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
Major partial trisomy Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group F Finding site False Chromosome structure Inferred relationship Some 2
Radiation chimera Finding site False Chromosome structure Inferred relationship Some 1
Monosomy 21, mosaicism Finding site False Chromosome structure Inferred relationship Some 1

Start Page 2 of 4 Next End

Reference Sets

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

Back to Start