FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

768931007: Partial trisomy of long arm of chromosome 1 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3687528019 Partial duplication of long arm of chromosome 1 en Synonym Active Entire term case insensitive SNOMED CT core module
3687529010 Partial trisomy of long arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3687530017 Partial trisomy of long arm of chromosome 1 en Synonym Active Entire term case insensitive SNOMED CT core module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial trisomy of long arm of chromosome 1 Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier 2
Partial trisomy of long arm of chromosome 1 Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Partial trisomy of long arm of chromosome 1 Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
Partial trisomy of long arm of chromosome 1 Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 1
Partial trisomy of long arm of chromosome 1 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Partial trisomy of long arm of chromosome 1 Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 2
Partial trisomy of long arm of chromosome 1 Is a Partial trisomy of chromosome 1 true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 1q syndrome Is a True Partial trisomy of long arm of chromosome 1 Inferred relationship Existential restriction modifier
1q21.1 microduplication syndrome Is a True Partial trisomy of long arm of chromosome 1 Inferred relationship Existential restriction modifier
Mosaic 1q duplication Is a True Partial trisomy of long arm of chromosome 1 Inferred relationship Existential restriction modifier
Proximal duplication of long arm of chromosome 1 Is a True Partial trisomy of long arm of chromosome 1 Inferred relationship Existential restriction modifier
Distal trisomy 1q Is a True Partial trisomy of long arm of chromosome 1 Inferred relationship Existential restriction modifier
Medial duplication of long arm of chromosome 1 Is a True Partial trisomy of long arm of chromosome 1 Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start