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107675007: Chromosomal morphology (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
172111013 Chromosomal morphology en Synonym Active Entire term case insensitive SNOMED CT core module
593454016 Chromosomal morphology (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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

This concept is not in any reference sets

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