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719909009: Chromosome Xq28 trisomy (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
4570721014 Chromosome Xq28 trisomy (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
4570722019 Chromosome Xq28 trisomy en Synonym Active Only initial character case insensitive SNOMED CT core module
4570723012 Trisomy Xq28 en Synonym Active Only initial character case insensitive SNOMED CT core module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome Xq28 trisomy Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier
Chromosome Xq28 trisomy Is a Mental retardation false Inferred relationship Existential restriction modifier
Chromosome Xq28 trisomy Is a Anomaly of chromosome X true Inferred relationship Existential restriction modifier
Chromosome Xq28 trisomy Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier
Chromosome Xq28 trisomy Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Chromosome Xq28 trisomy Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Chromosome Xq28 trisomy Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 2
Chromosome Xq28 trisomy Finding site Sex chromosome X true Inferred relationship Existential restriction modifier 2
Chromosome Xq28 trisomy Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Chromosome Xq28 trisomy Finding site Face structure false Inferred relationship Existential restriction modifier 3
Chromosome Xq28 trisomy Is a Intellectual disability false Inferred relationship Existential restriction modifier
Chromosome Xq28 trisomy Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Chromosome Xq28 trisomy Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 1
Chromosome Xq28 trisomy Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 2
Chromosome Xq28 trisomy Finding site Face structure false Inferred relationship Existential restriction modifier 1
Chromosome Xq28 trisomy Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 1
Chromosome Xq28 trisomy Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
Chromosome Xq28 trisomy Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Is a True Chromosome Xq28 trisomy Inferred relationship Existential restriction modifier
Distal Xq28 microduplication syndrome Is a True Chromosome Xq28 trisomy Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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