FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

880081006: 12q15 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3994443012 12q15 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3994444018 12q15 deletion 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
12q15 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
12q15 deletion syndrome Is a Deletion of part of long arm of chromosome 12 true Inferred relationship Existential restriction modifier
12q15 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
12q15 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
12q15 deletion syndrome Finding site Chromosome pair 12 true Inferred relationship Existential restriction modifier 1
12q15 deletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 2
12q15 deletion syndrome Finding site Chromosome pair 12 false Inferred relationship Existential restriction modifier 2
12q15 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
12q15 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
12q15 deletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
12q15 deletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 2
12q15 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
12q15q21.1 microdeletion syndrome Is a False 12q15 deletion syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start