787411009: Monosomy 22 syndrome (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Complete monosomy of autosome\Monosomy 22 syndrome

\Anomaly of chromosome pair 22\Monosomy 22 syndrome

\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 22 syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Complete monosomy of autosome\Monosomy 22 syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Monosomy 22 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 22 syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3775333010 Deletion 22 en Synonym Active Entire term case insensitive SNOMED CT core module
3775334016 Monosomy 22 (disorder) en Fully specified name Inactive Entire term case insensitive SNOMED CT core module
3775335015 Monosomy 22 en Synonym Active Entire term case insensitive SNOMED CT core module
4555265016 Monosomy 22 syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4555266015 Monosomy 22 syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Monosomy 22 syndrome	Is a	Monosomy and deletion from autosome	false	Inferred relationship	Existential restriction modifier
Monosomy 22 syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Monosomy 22 syndrome	Finding site	Chromosome pair 22	true	Inferred relationship	Existential restriction modifier	1
Monosomy 22 syndrome	Associated morphology	Monosomy	true	Inferred relationship	Existential restriction modifier	1
Monosomy 22 syndrome	Is a	Anomaly of chromosome pair 22	true	Inferred relationship	Existential restriction modifier
Monosomy 22 syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Monosomy 22 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Monosomy 22 syndrome	Is a	Complete monosomy of autosome	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

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This concept is not in any reference sets