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719574007: 14q12 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3313396013 14q12 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3313397016 14q12 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3313420014 Monosomy 14q12 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
14q12 microdeletion syndrome Is a Anomaly of chromosome pair 14 false Inferred relationship Existential restriction modifier
14q12 microdeletion syndrome Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier
14q12 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
14q12 microdeletion syndrome Finding site Chromosome pair 14 true Inferred relationship Existential restriction modifier 2
14q12 microdeletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
14q12 microdeletion syndrome Finding site Chromosome pair 14 false Inferred relationship Existential restriction modifier 3
14q12 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
14q12 microdeletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 3
14q12 microdeletion syndrome Is a Deletion of part of chromosome 14 false Inferred relationship Existential restriction modifier
14q12 microdeletion syndrome Is a Partial deletion of long arm of chromosome 14 true Inferred relationship Existential restriction modifier
14q12 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
14q12 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
14q12 microdeletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
14q12 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
14q12 microdeletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
14q12 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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