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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
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 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) est un(e) (attribut) Subcellular structure true Inferred relationship Some
Chromosome structure (cell structure) partie de corps entier (structure corporelle) false Additional relationship Some
Chromosome structure (cell structure) partie de Cell structure (cell structure) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
[X]Other specified chromosome abnormalities localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Aneuploidy NEC localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Balanced rearrangements and structural markers NEC localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Other specified conditions due to autosomal anomalies localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Unspecified conditions due to autosomal anomalies localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Other specified sex chromosome anomaly localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Pallister-Killian syndrome (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Autosomal chromosomal disorder (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
XXYY syndrome (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
[X]Townes-Brocks syndrome (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Chromatid (cell structure) est un(e) (attribut) True Chromosome structure (cell structure) Inferred relationship Some
Lattice corneal dystrophy, isolated form localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Macular corneal dystrophy localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Congenital macular corneal dystrophy localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Lattice corneal dystrophy Type II (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Meretoja syndrome (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Macular corneal dystrophy Type I (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Macular corneal dystrophy Type II (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Schnyder crystalline corneal dystrophy (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Chromosome (cell structure) est un(e) (attribut) True Chromosome structure (cell structure) Inferred relationship Some
Ullrich-Feichtiger syndrome, chimera localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Autosomal duplication (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Autosomal aneuploidy (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Autosomal chromosomal disorder (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
Duplication of chromosome localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some
[X]Other specified chromosome abnormalities localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Sex chromosome anomaly NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
[X]Other deletions from the autosomes localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Other sex chromosome abnormality NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Group chromosomal alteration localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 2
Balanced rearrangement or structural marker NEC NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
46, XX true hermaphrodite localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Extra marker chromosomes localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Additional chromosome NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Pseudotrisomy 18 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Chromosomal alterations of group A localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 2
Chimera 46, XX; 46, XY localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Deletion of chromosome NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Autosomal deletion - mosaicism localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Mosaicism NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Other sex chromosome anomaly localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Whole chromosome monosomy - mitotic nondisjunction mosaicism localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Chimera localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
[X]Other balanced rearrangements and structural markers localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Duplication with other complex rearrangement localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Minor partial trisomy localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Duplication seen only at prometaphase localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Ullrich-Feichtiger syndrome, chimera localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Partial trisomy syndrome NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Whole chromosome trisomy syndrome NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Individual with marker heterochromatin localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Trisomy and partial trisomy of autosome localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Balanced sex/autosomal rearrangement in abnormal individual localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Chromosome inversion in normal individual localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Balanced autosomal rearrangement in abnormal individual localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Trisomy of autosomes NEC NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Triploidy syndrome localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Trisomy 10 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Whole chromosome trisomy, mosaicism localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Trisomy 22 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Whole chromosome trisomy, meiotic nondisjunction (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Homologous chimera localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Trisomy 9 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Trisomy 12 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Deletion with complex rearrangement localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Chromosomal alterations of group D localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 2
Chromosomal alterations of group C and X localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 2
Trisomy 7 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Pallister-Killian syndrome (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Trisomy 8 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Trisomy 6 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Isologous chimera localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
XXYY syndrome (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Polyploidy syndrome localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Whole chromosome trisomy meiotic nondisjunction (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Autosomal aneuploidy (disorder) localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Deletion of long arm of chromosome 18 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Other deletions of part of a chromosome localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Whole chromosome trisomy - mitotic nondisjunction mosaicism localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Triploidy and polyploidy localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Balanced translocation and insertion in normal individual localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Other trisomy C syndromes localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Other specified whole chromosome trisomy syndrome localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Monosomies and deletions from the autosomes NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Balanced rearrangement and structural marker localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Other condition due to autosomal anomaly localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Aneuploidy NEC localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Deletion of short arm of chromosome 18 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Antimongolism syndrome localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
maladie chromosomique congénitale localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Unbalanced translocation and insertion localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Deletion seen only at prometaphase localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Deletion of part of autosome localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Deletion of long arm of chromosome 13 localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Whole chromosome monosomy - meiotic nondisjunction localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Conditions due to anomaly of unspecified chromosome NOS localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Major partial trisomy localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Chromosomal alterations of group F localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 2
chimère postirradiation localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1
Monosomy 21, mosaicism localisation d'une constatation (attribut) False Chromosome structure (cell structure) Inferred relationship Some 1

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Reference Sets

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

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