FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

890124000: 5q22.2 deletion syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4011213019 5q22.2 deletion syndrome en Synonym Active Case insensitive SNOMED CT core
4011214013 5q22.2 deletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
5q22.2 deletion syndrome Is a Deletion of part of long arm of chromosome 5 true Inferred relationship Some
5q22.2 deletion syndrome Is a Congenital anomaly false Inferred relationship Some
5q22.2 deletion syndrome Finding site Chromosome pair 5 true Inferred relationship Some 1
5q22.2 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 1
5q22.2 deletion syndrome Occurrence Congenital true Inferred relationship Some 1
5q22.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
5q22.2 deletion syndrome Associated morphology Deletion of long arm false Inferred relationship Some 2
5q22.2 deletion syndrome Finding site Chromosome pair 5 false Inferred relationship Some 2
5q22.2 deletion syndrome Occurrence Congenital true Inferred relationship Some 2
5q22.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
5q22.2 deletion syndrome Finding site Long arm of chromosome true Inferred relationship Some 2
5q22.2 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 2
5q22.2 deletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Familial adenomatous polyposis due to 5q22.2 microdeletion Due to True 5q22.2 deletion syndrome Inferred relationship Some 2

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start