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51500006: Complete trisomy 18 syndrome (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome
\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Complete trisomy 18 syndrome
\Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome

\Congenital disease\Congenital anomaly\Complete trisomy 18 syndrome
\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Complete trisomy 18 syndrome
\Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome

\Developmental disorder\Congenital anomaly\Complete trisomy 18 syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

789405015 Complete trisomy 18 syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
85775018 Complete trisomy 18 syndrome en Synonym Active Case insensitive SNOMED CT core
85776017 Edwards syndrome en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Complete trisomy 18 syndrome	Is a	Congenital anomaly	true	Inferred relationship	Some
Complete trisomy 18 syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Is a	Anomaly of chromosome pair 18	true	Inferred relationship	Some
Complete trisomy 18 syndrome	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Complete trisomy 18 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Complete trisomy 18 syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Complete trisomy 18 syndrome	Associated morphology	Trisomy	true	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 18 - meiotic nondisjunction	Is a	True	Complete trisomy 18 syndrome	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Is a	True	Complete trisomy 18 syndrome	Inferred relationship	Some
Edward's syndrome NOS	Is a	False	Complete trisomy 18 syndrome	Inferred relationship	Some
Fetus with complete trisomy 18 syndrome	Is a	False	Complete trisomy 18 syndrome	Inferred relationship	Some
Family history of trisomy 18	Associated finding	True	Complete trisomy 18 syndrome	Inferred relationship	Some	1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
789405015	Complete trisomy 18 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
85775018	Complete trisomy 18 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
85776017	Edwards syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core