FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

41669009: Alteration of chromosome structure (morphologic abnormality)

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
69509012 Alteration of chromosome structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
69510019 Alteration of chromosome structure, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
778483011 Alteration of chromosome structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

22 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alteration of chromosome structure est un(e) (attribut) Chromosomal morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Antimongolism syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Deletion of long arm of chromosome 13 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Balanced autosomal translocation morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy syndrome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy 6 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy 7 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy 8 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy 9 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy 10 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy 11 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy 12 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Trisomy 22 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy, meiotic nondisjunction (disorder) morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Whole chromosome trisomy, mosaicism morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Partial trisomy syndromes morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype, karyotype normal morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
XY, female phenotype morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome, XXYY morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Klinefelter's syndrome, XY/XXY mosaic morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Additional sex chromosome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Sex chromosome mosaicism morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some 2
Mosaic XO/XY morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some 2
Mosaic XO/XX morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some 2
Mosaic XY/XXY morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some 2
Mosaic including XXXXY morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some 2
Duplication of chromosome morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
absence de chromosome sexuel morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Pseudotrisomy 18 morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Autosomal deletion - mosaicism morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some
Turner's phenotype, partial X deletion karyotype morphologie associée (attribut) False Alteration of chromosome structure Inferred relationship Some

Start Previous Page 4 of 4

This concept is not in any reference sets

Back to Start