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768555009: 5q31.3 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3686034012 Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion en Synonym Active Entire term case insensitive SNOMED CT core module
3686035013 5q31.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3686036014 5q31.3 microdeletion 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
5q31.3 microdeletion syndrome Is a Neurodevelopmental disorder true Inferred relationship Existential restriction modifier
5q31.3 microdeletion syndrome Is a Deletion of part of long arm of chromosome 5 true Inferred relationship Existential restriction modifier
5q31.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
5q31.3 microdeletion syndrome Is a Seizure disorder true Inferred relationship Existential restriction modifier
5q31.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
5q31.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
5q31.3 microdeletion syndrome Finding site Chromosome pair 5 true Inferred relationship Existential restriction modifier 1
5q31.3 microdeletion syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 2
5q31.3 microdeletion syndrome Finding site Chromosome pair 5 false Inferred relationship Existential restriction modifier 3
5q31.3 microdeletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 1
5q31.3 microdeletion syndrome Associated morphology Partial monosomy false Inferred relationship Existential restriction modifier 3
5q31.3 microdeletion syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 4
5q31.3 microdeletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 2
5q31.3 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
5q31.3 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
5q31.3 microdeletion syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier 3
5q31.3 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
5q31.3 microdeletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
5q31.3 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
5q31.3 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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