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21111006: Complete trisomy 13 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 13 syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Complete trisomy 13 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Complete trisomy 13 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 13 syndrome

\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Complete trisomy 13 syndrome

\Trisomy and partial trisomy of autosome\Complete trisomy 13 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 13 syndrome	Is a	Anomaly of chromosome pair 13	false	Inferred relationship	Some
Complete trisomy 13 syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Complete trisomy 13 syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Complete trisomy 13 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
Complete trisomy 13 syndrome	Is a	13q partial trisomy syndrome	false	Inferred relationship	Some
Complete trisomy 13 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Is a	Anomaly of chromosome pair 13	true	Inferred relationship	Some
Complete trisomy 13 syndrome	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Complete trisomy 13 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Complete trisomy 13 syndrome	Associated morphology	Trisomy	true	Inferred relationship	Some	2
Complete trisomy 13 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1
Complete trisomy 13 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 13, meiotic nondisjunction	Is a	True	Complete trisomy 13 syndrome	Inferred relationship	Some
Trisomy 13 - mitotic nondisjunction mosaicism (disorder)	Is a	True	Complete trisomy 13 syndrome	Inferred relationship	Some
Patau's syndrome NOS	Is a	False	Complete trisomy 13 syndrome	Inferred relationship	Some
Aplasia cutis in Trisomy 13 syndrome (disorder)	Is a	False	Complete trisomy 13 syndrome	Inferred relationship	Some
Aplasia cutis in Trisomy 13 syndrome (disorder)	Associated with	True	Complete trisomy 13 syndrome	Inferred relationship	Some	2
Fetus with complete trisomy 13 syndrome (disorder)	Is a	False	Complete trisomy 13 syndrome	Inferred relationship	Some
Family history of trisomy 13 (situation)	Associated finding	True	Complete trisomy 13 syndrome	Inferred relationship	Some	1

Reference Sets

Belgian subset for neonatology in patient health records

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Id	Description	Lang	Type	Status	Case?	Module
35482019	Complete trisomy 13 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
35483012	Patau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
35484018	D>1< trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
750370014	Complete trisomy 13 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1260711000172115	trisomie totale 13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1143731000172112	volledige trisomie 13	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1233791000172112	syndroom van Patau	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)