FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

107675007: Chromosomal morphology (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
172111013 Chromosomal morphology en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
593454016 Chromosomal morphology (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

54 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosomal morphology est un(e) (attribut) Cellular AND/OR subcellular abnormality true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 3
Fragile X syndrome morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 1
Carrier of fragile X chromosome (finding) morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 3
Chromosomal translocation est un(e) (attribut) True Chromosomal morphology Inferred relationship Some
Alteration of chromosome structure est un(e) (attribut) True Chromosomal morphology Inferred relationship Some
Karyotype 46, X iso (Xq) morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Karyotype 46, X with abnormal sex chromosome except iso (Xq) morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Mosaicism 45, X / other cell line with abnormal sex chromosome morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Turner's phenotype - ring chromosome karyotype morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Mosaicism 45, X; 46, XX morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
syndrome de Turner morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 1
Mixed gonadal dysgenesis morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 3
Turner's phenotype, karyotype normal morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Turner's phenotype, partial X deletion karyotype morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
[X]Other variants of Turner's syndrome morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Ovarian dwarfism NEC morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Bonnevie-Ullrich syndrome NOS morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Turner's phenotype, other variant karyotypes morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Turner's syndrome NOS morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Karyotype morphology est un(e) (attribut) True Chromosomal morphology Inferred relationship Some
Turner's phenotype, partial X deletion karyotype morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Mosaicism 45, X / other cell line with abnormal sex chromosome morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Karyotype 46, X with abnormal sex chromosome except iso (Xq) morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Mosaicism 45, X; 46, XX morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
syndrome de Turner morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Bonnevie-Ullrich syndrome NOS morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Mixed gonadal dysgenesis morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Turner's phenotype - ring chromosome karyotype morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Ovarian dwarfism NEC morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Turner's syndrome NOS morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Turner's phenotype, other variant karyotypes morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Karyotype 46, X iso (Xq) morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Turner's phenotype, karyotype normal morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Fetus with Turner syndrome morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some
Trisomy X syndrome morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
syndrome de Turner morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Karyotype 46, X with abnormal sex chromosome except iso (Xq) morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Fetus with Turner syndrome morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 1
Turner's phenotype, karyotype normal morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
XXXXY syndrome morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
XX males morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Penta X syndrome morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Karyotype 46, X iso (Xq) morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Turner's phenotype, partial X deletion karyotype morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Mosaicism - lines with various numbers of X chromosomes morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
Turner's phenotype - ring chromosome karyotype morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Anomaly of chromosome X morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
FRAXA morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Mixed gonadal dysgenesis morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 1
XXXY syndrome morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Fragile X chromosome morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Klinefelter syndrome, male with 46,XX karyotype (disorder) morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Mosaicism 45, X; 46, XX morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Four X syndrome morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 2
FRAXE morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 2
Monosomy X morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 1
Mosaic Turner syndrome (disorder) morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 1
Mosaicism 45, X or other cell line with abnormal sex chromosome morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 1
FRAXF syndrome (disorder) morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 1
FRAXE intellectual disability syndrome (disorder) morphologie associée (attribut) True Chromosomal morphology Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) morphologie associée (attribut) False Chromosomal morphology Inferred relationship Some 1

This concept is not in any reference sets

Back to Start