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

50992006: 22q partial trisomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
84978016 22q partial trisomy syndrome en Synonym Inactive Entire term case insensitive SNOMED CT core module
788842014 22q partial trisomy syndrome (disorder) en Fully specified name Inactive Entire term case insensitive SNOMED CT core module
4555269010 22q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4555270011 22q partial trisomy en Synonym Active Entire term case insensitive SNOMED CT core module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
22q partial trisomy Is a Anomaly of chromosome pair 22 false Inferred relationship Existential restriction modifier
22q partial trisomy Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier
22q partial trisomy Finding site Sex chromosome false Inferred relationship Existential restriction modifier
22q partial trisomy Occurrence Congenital false Inferred relationship Existential restriction modifier
22q partial trisomy Associated morphology Trisomy false Inferred relationship Existential restriction modifier
22q partial trisomy Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
22q partial trisomy Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 1
22q partial trisomy Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
22q partial trisomy Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
22q partial trisomy Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 1
22q partial trisomy Occurrence Congenital true Inferred relationship Existential restriction modifier 1
22q partial trisomy Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier 1
22q partial trisomy Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 1
22q partial trisomy Is a Partial trisomy of chromosome 22 true Inferred relationship Existential restriction modifier
22q partial trisomy Occurrence Congenital true Inferred relationship Existential restriction modifier 2
22q partial trisomy Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 2
22q partial trisomy Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
22q11.2 duplication syndrome Is a True 22q partial trisomy Inferred relationship Existential restriction modifier
Distal trisomy 22q syndrome Is a True 22q partial trisomy Inferred relationship Existential restriction modifier
Distal 22q11.2 microduplication syndrome Is a True 22q partial trisomy Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start