766716004: Monosomy 13q34 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\Deletion of part of autosome\Deletion of part of chromosome 13\Deletion of long arm of chromosome 13\Monosomy 13q34 syndrome

\Anomaly of chromosome pair 13\Deletion of part of chromosome 13\Deletion of long arm of chromosome 13\Monosomy 13q34 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 13q34 syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3662371014 Monosomy 13q34 en Synonym Active Only initial character case insensitive SNOMED CT core module

3662373012 Subtelomeric deletion 13q34 en Synonym Active Only initial character case insensitive SNOMED CT core module

3662374018 Distal deletion 13q34 en Synonym Active Only initial character case insensitive SNOMED CT core module

4590294016 Monosomy 13q34 syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4590295015 Monosomy 13q34 syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Monosomy 13q34 syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Monosomy 13q34 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Existential restriction modifier	1
Monosomy 13q34 syndrome	Is a	13q partial monosomy syndrome	false	Inferred relationship	Existential restriction modifier
Monosomy 13q34 syndrome	Finding site	Chromosome pair 13	true	Inferred relationship	Existential restriction modifier	2
Monosomy 13q34 syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Monosomy 13q34 syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	1
Monosomy 13q34 syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Monosomy 13q34 syndrome	Is a	Deletion of long arm of chromosome 13	true	Inferred relationship	Existential restriction modifier
Monosomy 13q34 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Monosomy 13q34 syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Monosomy 13q34 syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Monosomy 13q34 syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Monosomy 13q34 syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets