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41040004: Complete trisomy 21 syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Complete trisomy 21 syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Complete trisomy 21 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Complete trisomy 21 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 21 syndrome

\Congenital disease (disorder)\Congenital malformation\Complete trisomy 21 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Complete trisomy 21 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 21 syndrome

\Developmental disorder\Congenital malformation\Complete trisomy 21 syndrome

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
Complete trisomy 21 syndrome	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Complete trisomy 21 syndrome	Is a	Anomaly of chromosome pair 21	true	Inferred relationship	Some
Complete trisomy 21 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Complete trisomy 21 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Complete trisomy 21 syndrome	Associated morphology	Trisomy	true	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	2
Complete trisomy 21 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	2
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	2
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	2
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	2
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	2
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some	2
Complete trisomy 21 syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Complete trisomy 21 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Finding site	Chromosome pair 21	true	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Is a	Congenital malformation	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 21- meiotic nondisjunction	Is a	True	Complete trisomy 21 syndrome	Inferred relationship	Some
Trisomy 21- mitotic nondisjunction mosaicism	Is a	True	Complete trisomy 21 syndrome	Inferred relationship	Some
Down's syndrome NOS	Is a	False	Complete trisomy 21 syndrome	Inferred relationship	Some
Suspect trisomy 21 fetus	Associated finding	True	Complete trisomy 21 syndrome	Inferred relationship	Some	1
Family history of complete trisomy 21 syndrome	Associated finding	False	Complete trisomy 21 syndrome	Inferred relationship	Some	1
Suspected Downs syndrome	Associated finding	False	Complete trisomy 21 syndrome	Inferred relationship	Some	1
Family history of complete trisomy 21 syndrome	Associated finding	True	Complete trisomy 21 syndrome	Inferred relationship	Some	1
Suspected Downs syndrome	Associated finding	True	Complete trisomy 21 syndrome	Inferred relationship	Some	1
maternell screening för Downs syndrom	Has focus	False	Complete trisomy 21 syndrome	Inferred relationship	Some
Down's screening - blood test	Has focus	True	Complete trisomy 21 syndrome	Inferred relationship	Some	3
Downs screening test	Has focus	True	Complete trisomy 21 syndrome	Inferred relationship	Some	2
Family history of complete trisomy 21 syndrome	Associated finding	False	Complete trisomy 21 syndrome	Inferred relationship	Some	1
Suspect trisomy 21 fetus	Associated finding	False	Complete trisomy 21 syndrome	Inferred relationship	Some	1
Fetus with complete trisomy 21 syndrome (disorder)	Is a	False	Complete trisomy 21 syndrome	Inferred relationship	Some
parodontit samtidigt med Downs syndrom	Is a	False	Complete trisomy 21 syndrome	Inferred relationship	Some
Myeloid leukemia co-occurrent with Down syndrome (disorder)	Is a	True	Complete trisomy 21 syndrome	Inferred relationship	Some
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder)	Is a	True	Complete trisomy 21 syndrome	Inferred relationship	Some
Dementia with Down syndrome	Due to	True	Complete trisomy 21 syndrome	Inferred relationship	Some	1
Dementia with Down syndrome	Is a	True	Complete trisomy 21 syndrome	Inferred relationship	Some
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder)	Is a	True	Complete trisomy 21 syndrome	Inferred relationship	Some
Translocation Down syndrome (disorder)	Is a	True	Complete trisomy 21 syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
68470016	Complete trisomy 21 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68471017	Down syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
777783010	Complete trisomy 21 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229711010	T21 - Trisomy 21	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2921053011	Downs syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2479181000052116	komplett trisomi 21-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)