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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
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

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 partie de Cell false Inferred relationship Some
Chromosome structure partie de Entire body as a whole false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Monosomy 21, mosaicism 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
Other deletion of part of a chromosome NOS Finding site False Chromosome structure Inferred relationship Some 1
[X]Townes-Brocks syndrome Finding site False Chromosome structure Inferred relationship Some 1
Monosomy and deletion from autosome Finding site False Chromosome structure Inferred relationship Some 1
Deletions with other complex rearrangements 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 deletions from the autosomes Finding site False Chromosome structure Inferred relationship Some 1
Chromosome replaced with ring or dicentric Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group G and Y Finding site False Chromosome structure Inferred relationship Some 2
[X]Chromosomal abnormalities, not elsewhere classified Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome monosomy, mosaicism NOS Finding site False Chromosome structure Inferred relationship Some 1
Individual with autosomal fragile site Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal anomalies NOS Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 11 Finding site False Chromosome structure Inferred relationship Some 1
Heterologous chimera Finding site False Chromosome structure Inferred relationship Some 1
Fragile X syndrome Finding site False Chromosome structure Inferred relationship Some 1
Other specified sex chromosome anomaly Finding site False Chromosome structure Inferred relationship Some 1
Trisomies of autosomes NEC Finding site False Chromosome structure Inferred relationship Some 1
Unspecified conditions due to autosomal anomalies Finding site False Chromosome structure Inferred relationship Some 1
Balanced autosomal translocation Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group B Finding site False Chromosome structure Inferred relationship Some 2
Whole chromosome trisomy syndrome Finding site False Chromosome structure Inferred relationship Some 1
Partial trisomy syndromes Finding site False Chromosome structure Inferred relationship Some 1
[X]Other deletions of part of a chromosome 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
Chromosomal alterations of group E Finding site False Chromosome structure Inferred relationship Some 2
Triploidy, diploidy, mixoploidy syndrome Finding site False Chromosome structure Inferred relationship Some 1
[X]Other specified trisomies and partial trisomies of autosomes Finding site False Chromosome structure Inferred relationship Some 1
Major partial trisomy Finding site True Chromosome structure Inferred relationship Some 1
Trisomy 10 Finding site False Chromosome structure Inferred relationship Some 1
XXYY syndrome (disorder) Finding site True Chromosome structure Inferred relationship Some 1
Duplication seen only at prometaphase Finding site True Chromosome structure Inferred relationship Some 1
Group chromosomal alteration Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group A Finding site False Chromosome structure Inferred relationship Some 1
Mosaic variegated aneuploidy syndrome (disorder) Finding site True Chromosome structure Inferred relationship Some 1
Chromosome replaced with ring or dicentric Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group B Finding site False Chromosome structure Inferred relationship Some 1
Triploidy, diploidy, mixoploidy syndrome Finding site True Chromosome structure Inferred relationship Some 1
Partial trisomy syndromes Finding site True Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group E Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy - mitotic nondisjunction mosaicism Finding site True Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group D (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group G and Y Finding site False Chromosome structure Inferred relationship Some 1
Homologous chimera Finding site True Chromosome structure Inferred relationship Some 1
Triploidy and polyploidy Finding site True Chromosome structure Inferred relationship Some 1
Pseudotrisomy 18 Finding site True Chromosome structure Inferred relationship Some 1
Trisomy 7 Finding site False Chromosome structure Inferred relationship Some 1
cariotype 46 XX de type hermaphrodisme Finding site False Chromosome structure Inferred relationship Some 1
Congenital chromosomal disease Finding site True Chromosome structure Inferred relationship Some 1
Duplication with other complex rearrangement Finding site True Chromosome structure Inferred relationship Some 1
Trisomy 6 Finding site True Chromosome structure Inferred relationship Some 1
Isologous chimera Finding site True Chromosome structure Inferred relationship Some 1
Trisomy 22 Finding site False Chromosome structure Inferred relationship Some 1
chimère postirradiation Finding site False Chromosome structure Inferred relationship Some 1
Heterologous chimera Finding site True Chromosome structure Inferred relationship Some 1
Chimera Finding site True Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy, mosaicism Finding site True Chromosome structure Inferred relationship Some 1
Chimera 46, XX; 46, XY Finding site True Chromosome structure Inferred relationship Some 1
Minor partial trisomy Finding site True Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group F Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 11 Finding site True Chromosome structure Inferred relationship Some 1
Chromosomal alterations of group C and X Finding site False Chromosome structure Inferred relationship Some 1
Trisomy 9 (disorder) Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy, meiotic nondisjunction Finding site False Chromosome structure Inferred relationship Some 1
Trisomy and partial trisomy of autosome Finding site True Chromosome structure Inferred relationship Some 1
Triploidy syndrome Finding site True Chromosome structure Inferred relationship Some 1
Polyploidy syndrome Finding site True Chromosome structure Inferred relationship Some 1
Pallister-Killian syndrome Finding site False Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy syndrome Finding site True Chromosome structure Inferred relationship Some 1
Whole chromosome trisomy meiotic nondisjunction (disorder) Finding site True Chromosome structure Inferred relationship Some 1
Trisomy 8 Finding site True Chromosome structure Inferred relationship Some 1
Trisomy 12 Finding site False Chromosome structure Inferred relationship Some 1
A rare chromosomal anomaly characterised by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. Finding site False Chromosome structure Inferred relationship Some 2
Emanuel syndrome Finding site True Chromosome structure Inferred relationship Some 1
Fragile X syndrome Finding site False Chromosome structure Inferred relationship Some 2
syndrome de Meretoja Finding site False Chromosome structure Inferred relationship Some 2
Lattice corneal dystrophy Type II Finding site False Chromosome structure Inferred relationship Some 2
Familial extra unidentified structurally abnormal chromosome (disorder) Finding site True Chromosome structure Inferred relationship Some 1
Fetal chromosomal abnormality (disorder) Finding site False Chromosome structure Inferred relationship Some 2
Macular corneal dystrophy Finding site False Chromosome structure Inferred relationship Some
Balanced autosomal rearrangement in abnormal individual Finding site True Chromosome structure Inferred relationship Some 1
Autosomal chromosomal disorder (disorder) Finding site True Chromosome structure Inferred relationship Some 1
Chromosomal disorder (disorder) Finding site True Chromosome structure Inferred relationship Some 1
Balanced rearrangement and structural marker Finding site True Chromosome structure Inferred relationship Some 1
Congenital macular corneal dystrophy Finding site False Chromosome structure Inferred relationship Some
Lattice corneal dystrophy, isolated form Finding site False Chromosome structure Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) Finding site False Chromosome structure Inferred relationship Some 3
Unbalanced translocation and insertion Finding site True Chromosome structure Inferred relationship Some 2
Individual with autosomal fragile site Finding site True Chromosome structure Inferred relationship Some 1
Extra unidentified structurally abnormal chromosome (disorder) Finding site True Chromosome structure Inferred relationship Some 1
Duplication of chromosome Finding site True Chromosome structure Inferred relationship Some 1
Unbalanced translocation of chromosome (disorder) Finding site True Chromosome structure Inferred relationship Some 2
Balanced translocation and insertion in normal individual Finding site True Chromosome structure Inferred relationship Some 1
Macular corneal dystrophy Type I (disorder) Finding site False Chromosome structure Inferred relationship Some
Suspect cystic fibrosis fetus Finding site False Chromosome structure Inferred relationship Some
fœtus ayant une anomalie chromosomique avec problème prénatal Finding site False Chromosome structure Inferred relationship Some 1
Individual with marker heterochromatin Finding site True Chromosome structure Inferred relationship Some 1
Fetus with chromosomal abnormality - delivered Finding site False Chromosome structure Inferred relationship Some 1
Macular corneal dystrophy Type II (disorder) Finding site False Chromosome structure Inferred relationship Some
Autosomal aneuploidy (disorder) Finding site True Chromosome structure Inferred relationship Some 2

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Reference Sets

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

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