FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

719665003: 5q35 microduplication syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3317302017 5q35 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3317303010 5q35 microduplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3317304016 Trisomy 5q35 en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
5q35 microduplication syndrome Is a Anomaly of chromosome pair 5 false Inferred relationship Existential restriction modifier
5q35 microduplication syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier
5q35 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 1
5q35 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
5q35 microduplication syndrome Finding site Chromosome pair 5 true Inferred relationship Existential restriction modifier 1
5q35 microduplication syndrome Is a Partial trisomy of chromosome 5 false Inferred relationship Existential restriction modifier
5q35 microduplication syndrome Is a Partial trisomy of long arm of chromosome 5 true Inferred relationship Existential restriction modifier
5q35 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 2
5q35 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
5q35 microduplication syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 2
5q35 microduplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
5q35 microduplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
5q35 microduplication syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start