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107675007: Chromosomal morphology (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Cellular AND/OR subcellular abnormality\Chromosomal morphology

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

9911000052111 kromosommorfologi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
mosaikism 45, X/annan cellinje med avvikande könskromosom	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
Turners fenotyp, mosaikism 45, X; 46, XX eller 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
mosaikism 45, X/annan cellinje med avvikande könskromosom	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
Turners fenotyp, mosaikism 45, X; 46, XX eller 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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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
9911000052111	kromosommorfologi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)