897546001: Distal trisomy 12q (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q
\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q
\Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q

\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q

\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4034288010 Distal trisomy 12q (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4034289019 Distal trisomy 12q en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 12q	Is a	12q partial trisomy syndrome	true	Inferred relationship	Some
Distal trisomy 12q	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 12q	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
Distal trisomy 12q	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 12q	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Distal trisomy 12q	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 12q	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set