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

699311001: 22q11.2 duplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
2983751019 Chromosome 22q11.2 microduplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
2983753016 22q11.2 duplication en Synonym Active Only initial character case insensitive SNOMED CT core module
2983761014 Chromosome 22q11.2 duplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
2983786017 22q11.2 duplication (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
4555271010 22q11.2 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4555272015 22q11.2 duplication syndrome 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
22q11.2 duplication syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Is a Duplication of chromosome false Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Is a Anomaly of chromosome pair 22 false Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
22q11.2 duplication syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier 1
22q11.2 duplication syndrome Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 1
22q11.2 duplication syndrome Is a 22q partial trisomy true Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 1
22q11.2 duplication syndrome Is a Congenital malformation false Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
22q11.2 duplication syndrome Finding site Short arm of chromosome false Inferred relationship Existential restriction modifier 1
22q11.2 duplication syndrome Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier 2
22q11.2 duplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 2
22q11.2 duplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
22q11.2 duplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
22q11.2 duplication syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start