FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

726338000: Partial trisomy of chromosome 1 (disorder)


Status: current, Defined. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498261017 Partial trisomy of chromosome 1 en Synonym Active Case insensitive SNOMED CT core
3498262012 Duplication of chromosome 1 en Synonym Active Case insensitive SNOMED CT core
3498263019 Partial trisomy of chromosome 1 (disorder) en Fully specified name Active Case insensitive SNOMED CT core


12 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial trisomy of chromosome 1 Is a Anomaly of chromosome pair 1 true Inferred relationship Some
Partial trisomy of chromosome 1 Is a Trisomy and partial trisomy of autosome true Inferred relationship Some
Partial trisomy of chromosome 1 Associated morphology Partial trisomy true Inferred relationship Some 1
Partial trisomy of chromosome 1 Occurrence Congenital true Inferred relationship Some 1
Partial trisomy of chromosome 1 Finding site Chromosome pair 1 true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
1q partial trisomy syndrome Is a False Partial trisomy of chromosome 1 Inferred relationship Some
Partial trisomy of short arm of chromosome 1 Is a True Partial trisomy of chromosome 1 Inferred relationship Some
Partial trisomy of long arm of chromosome 1 Is a True Partial trisomy of chromosome 1 Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start