107673000: Cellular AND/OR subcellular abnormality (morphologic abnormality)

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

172109016 Cellular AND/OR subcellular abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
593432018 Cellular AND/OR subcellular abnormality (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4241000052118 cellulär och/eller subcellulär avvikelse 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
Cellular AND/OR subcellular abnormality	Is a	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Polymorphous corneal dystrophy	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Anomaly of chromosome pair 3	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Complete trisomy 8 syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Penta X syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
XY, female phenotype	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Karyotype 46, X iso (Xq)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Male with sex chromosome mosaicism	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 19	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
22q11.2 duplication syndrome (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaicism - lines with various numbers of X chromosomes	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
21q partial distal trisomy (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Male with structurally abnormal sex chromosome	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 21- meiotic nondisjunction	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Complete trisomy 16 syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 18 - meiotic nondisjunction	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome XXXY	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaic XO/XX	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Congenital hereditary endothelial dystrophy type 1 (disorder)	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Tetrasomy 12p syndrome (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome X	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Sex phenotype-karyotype dissociation syndrome	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
FRAXA	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Anomaly of chromosome pair 7	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Ring chromosome 18 syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Additional sex chromosome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Sex chromosome mosaicism (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Double Y syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
XXXY syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 9	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
café-au-lait-fläckar och ringkromosom 11	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 21- mitotic nondisjunction mosaicism	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 11 (disorder)	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Fragile X chromosome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 4	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
15q24 microdeletion	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 13, meiotic nondisjunction	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Congenital hereditary endothelial dystrophy type 2 (disorder)	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
15q13.3 microdeletion	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaic XY/XXY	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
22q13.3 deletion syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 13 - mitotic nondisjunction mosaicism (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
21q partial trisomy (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
XY females	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 18	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
mosaikism 45, X/annan cellinje med avvikande könskromosom	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Four X syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 1	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
11p partial monosomy syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelters syndrom	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Tetrasomy 18p	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
1q21.1 microdeletion	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
FRAXE	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome, XY/XXY mosaic	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Ring chromosome 1 syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of sex chromosome	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Ulnar mammary syndrome	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Fetus with complete trisomy 13 syndrome (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Fetus with complete trisomy 18 syndrome (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Fetus with complete trisomy 21 syndrome (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Fetus with Turner syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Prader-Willi syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Williams syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Potocki-Shaffer syndrome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	6
Deletion of part of autosome	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder)	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
partiellt monosomi 22q11-syndrom	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Monosomy 21, mosaicism	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Monosomy and deletion from autosome (disorder)	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion with complex rearrangement (disorder)	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion of long arm of chromosome 13	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Whole chromosome monosomy - meiotic nondisjunction (disorder)	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion seen only at prometaphase	Associated morphology	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion of short arm of chromosome 18	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
parodontit samtidigt med Downs syndrom	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Tetrasomy of short arm of chromosome 9 (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Maternal uniparental disomy of chromosome 20 (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 20 (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
17q-deletionssyndromet	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Koolen De Vries syndrome (disorder)	Associated morphology	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
172109016	Cellular AND/OR subcellular abnormality	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
593432018	Cellular AND/OR subcellular abnormality (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4241000052118	cellulär och/eller subcellulär avvikelse	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)