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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
455916012 Chromosome structure en Synonym (core metadata concept) Active Only initial character 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
708887011 Chromosome structure (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1187856012 Chromosome structure (cell structure) en Fully specified name Active 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 (cell structure) Is a Subcellular structure true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome structure (cell structure) partie de Cell false Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome structure (cell structure) partie de Entire body as a whole (body structure) false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Monosomy 21, mosaicism (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other specified conditions due to autosomal anomalies Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other deletion of part of a chromosome NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Townes-Brocks syndrome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy and deletion from autosome (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletions with other complex rearrangements Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced rearrangements and structural markers NEC Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other deletions from the autosomes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome replaced with ring or dicentric Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group G and Y Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
[X]Chromosomal abnormalities, not elsewhere classified Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome monosomy, mosaicism NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Individual with autosomal fragile site (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal anomalies NOS Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 11 Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Heterologous chimera (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fragile X syndrome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Other specified sex chromosome anomaly Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomies of autosomes NEC Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Unspecified conditions due to autosomal anomalies Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced autosomal translocation (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group B Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Whole chromosome trisomy syndrome (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy syndromes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Other deletions of part of a chromosome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Balanced rearrangement and structural marker, unspecified Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group E (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Triploidy, diploidy, mixoploidy syndrome (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
[X]Other specified trisomies and partial trisomies of autosomes Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Major partial trisomy Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 10 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
XXYY syndrome Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication seen only at prometaphase (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Group chromosomal alteration Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group A Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic variegated aneuploidy syndrome (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome replaced with ring or dicentric Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group B Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Triploidy, diploidy, mixoploidy syndrome (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy syndromes Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group E (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy - mitotic nondisjunction mosaicism Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group D Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group G and Y Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Homologous chimera (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Triploidy and polyploidy Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudotrisomy 18 Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 7 Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
cariotype 46 XX de type hermaphrodisme Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chromosomal disease Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication with other complex rearrangement Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 6 Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Isologous chimera Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 22 Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
chimère postirradiation Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Heterologous chimera (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chimera (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy, mosaicism Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chimera 46, XX; 46, XY Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Minor partial trisomy (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group F Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 11 Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group C and X Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 9 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy, meitotic nondisjunction Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy and partial trisomy of autosome Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
triploïdie Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
polyploïdie Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pallister-Killian syndrome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy syndrome (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome trisomy meiotic nondisjunction (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 8 (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 12 (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Disease with characteristics of 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 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Emanuel syndrome Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fragile X syndrome Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
syndrome de Meretoja Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Lattice corneal dystrophy Type II Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial extra unidentified structurally abnormal chromosome Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with chromosomal abnormality Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Macular corneal dystrophy Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Balanced autosomal rearrangement in abnormal individual Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal chromosomal disorder (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal disorder (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Balanced rearrangement and structural marker (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital macular corneal dystrophy Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Lattice corneal dystrophy, isolated form Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Gelatinous droplike corneal dystrophy Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Unbalanced translocation and insertion (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Individual with autosomal fragile site (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Extra unidentified structurally abnormal chromosome Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of chromosome (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Unbalanced translocation of chromosome Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Balanced translocation and insertion in normal individual Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Macular corneal dystrophy Type I (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Suspect cystic fibrosis fetus Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
fœtus ayant une anomalie chromosomique avec problème prénatal Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Individual with marker heterochromatin (disorder) Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with chromosomal abnormality - delivered Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Macular corneal dystrophy Type II (disorder) Finding site False Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal aneuploidy Finding site True Chromosome structure (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2

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

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