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

This concept is not in any reference sets

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