107673000: anomalie cellulaire et/ou subcellulaire (anomalie morphologique)

SNOMED CT Concept\structure corporelle\structure modifiée sur le plan morphologique\structure anormale sur le plan morphologique\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cellular AND/OR subcellular abnormality	est un(e) (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete trisomy 8 syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
anomalie du chromosome 12 (trouble)	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Penta X syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
XY, female phenotype	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Ring chromosome 22 syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Karyotype 46, X iso (Xq)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Male with sex chromosome mosaicism	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Complete trisomy 13 syndrome	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 19	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
22q11.2 duplication syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaicism - lines with various numbers of X chromosomes	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
21q partial distal trisomy (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Male with structurally abnormal sex chromosome	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 21- meiotic nondisjunction	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Complete trisomy 16 syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 18 - meiotic nondisjunction	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome XXXY	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaic XO/XX	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Congenital hereditary endothelial dystrophy type 1 (disorder)	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
tétrasomie 12p (trouble)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome X	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Sex phenotype-karyotype dissociation syndrome	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Angelman syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
FRAXA	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
anomalie du chromosome 22	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mixed gonadal dysgenesis	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
anomalie du chromosome 7 (trouble)	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Ring chromosome 18 syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Additional sex chromosome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Sex chromosome mosaicism	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Double Y syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
XXXY syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
anomalie du chromosome 9 (trouble)	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Café-au-lait spots and ring chromosome 11 (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 21- mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 11	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
syndrome de chromosome 9 en anneau	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Fragile X chromosome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 4	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
15q24 microdeletion	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 13, meiotic nondisjunction	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
dystrophie endothéliale congénitale héréditaire type II	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Klinefelter syndrome, male with 46,XX karyotype (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
15q13.3 microdeletion	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaic XY/XXY	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
22q13.3 deletion syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Trisomy 13 - mitotic nondisjunction mosaicism	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
21q partial trisomy (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
XY females	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
anomalie du chromosome 18 (trouble)	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Mosaicism 45, X / other cell line with abnormal sex chromosome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Four X syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of chromosome pair 1	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
11p partial monosomy syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Klinefelter's syndrome, XXYY	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
anomalie du chromosome 16 (trouble)	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Tetrasomy 18p	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
1q21.1 microdeletion	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
FRAXE	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Klinefelter's syndrome, XY/XXY mosaic	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
syndrome du chromosome 1 en anneau (trouble)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Anomaly of sex chromosome	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Ulnar mammary syndrome	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Fetus with complete trisomy 13 syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Fetus with complete trisomy 18 syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Fetus with complete trisomy 21 syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Fetus with Turner syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Prader-Willi syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Williams syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Potocki-Shaffer syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	6
Deletion of part of autosome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Autosomal deletion - mosaicism	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Whole chromosome monosomy - mitotic nondisjunction mosaicism	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
22q11 partial monosomy syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Monosomy 21, mosaicism	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Monosomy and deletion from autosome	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion with complex rearrangement	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion of long arm of chromosome 13	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Whole chromosome monosomy - meiotic nondisjunction	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion seen only at prometaphase	morphologie associée (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion of short arm of chromosome 18	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Dual red blood cell population	est un(e) (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some
Periodontitis co-occurrent with Down syndrome	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Chromosome 11p13 deletion syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Tetrasomy of short arm of chromosome 9 (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	2
Maternal uniparental disomy of chromosome 20 (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 20 (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Deletion of long arm of chromosome 17 (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	1
Koolen De Vries syndrome (disorder)	morphologie associée (attribut)	False	Cellular AND/OR subcellular abnormality	Inferred relationship	Some	3
Aggregated spermatozoa (morphologic abnormality)	est un(e) (attribut)	True	Cellular AND/OR subcellular abnormality	Inferred relationship	Some

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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
65111000077114	anomalie cellulaire et/ou subcellulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
687171000077115	anomalie cellulaire et/ou subcellulaire (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)