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699305004: 1q21.1 microdeletion 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
2983579010 Chromosome 1q21.1 deletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
2983615017 1q21.1 contiguous gene deletion en Synonym Active Entire term case insensitive SNOMED CT core module
2983618015 Microdeletion of chromosome 1q21.1 (disorder) en Fully specified name Inactive Entire term case insensitive SNOMED CT core module
2983705015 1q21.1 microdeletion en Synonym Active Entire term case insensitive SNOMED CT core module
3015049014 Microdeletion of chromosome 1q21.1 en Synonym Active Entire term case insensitive SNOMED CT core module
4555237018 1q21.1 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4555239015 1q21.1 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
1q21.1 microdeletion syndrome Is a Anomaly of chromosome pair 1 false Inferred relationship Existential restriction modifier
1q21.1 microdeletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
1q21.1 microdeletion syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
1q21.1 microdeletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier
1q21.1 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
1q21.1 microdeletion syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier 1
1q21.1 microdeletion syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier 1
1q21.1 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
1q21.1 microdeletion syndrome Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier 2
1q21.1 microdeletion syndrome Is a 1q partial monosomy true Inferred relationship Existential restriction modifier
1q21.1 microdeletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
1q21.1 microdeletion syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier 3
1q21.1 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
1q21.1 microdeletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 3
1q21.1 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
1q21.1 microdeletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
1q21.1 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
1q21.1 microdeletion syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier
1q21.1 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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