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773493002: 9q31.1q31.3 microdeletion syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3723709019 9q31.1q31.3 microdeletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3723710012 9q31.1q31.3 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3723711011 Monosomy 9q31.1q31.3 en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
9q31.1q31.3 microdeletion syndrome Finding site Chromosome pair 9 true Inferred relationship Existential restriction modifier 2
9q31.1q31.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
9q31.1q31.3 microdeletion syndrome Is a 9q partial monosomy syndrome true Inferred relationship Existential restriction modifier
9q31.1q31.3 microdeletion syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
9q31.1q31.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
9q31.1q31.3 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
9q31.1q31.3 microdeletion syndrome Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier 3
9q31.1q31.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
9q31.1q31.3 microdeletion syndrome Finding site Chromosome pair 9 true Inferred relationship Existential restriction modifier 3
9q31.1q31.3 microdeletion syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
9q31.1q31.3 microdeletion syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
9q31.1q31.3 microdeletion syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
9q31.1q31.3 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
9q31.1q31.3 microdeletion syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 4
9q31.1q31.3 microdeletion syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
9q31.1q31.3 microdeletion syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 5
9q31.1q31.3 microdeletion syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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