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770908007: 49,XXXYY syndrome (disorder)

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

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

\Sex chromosome aneuploidy\49,XXXYY syndrome

\Anomaly of chromosome X\49,XXXYY syndrome

\Anomaly of chromosome Y\49,XXXYY syndrome

\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\49,XXXYY syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome aneuploidy\49,XXXYY syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\49,XXXYY syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome Y\49,XXXYY syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\49,XXXYY syndrome

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

3703371012 49,XXXYY syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3703373010 49,XXXYY syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
49,XXXYY syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
49,XXXYY syndrome	Associated morphology	Aneuploidy	true	Inferred relationship	Existential restriction modifier	2
49,XXXYY syndrome	Is a	Sex chromosome aneuploidy	true	Inferred relationship	Existential restriction modifier
49,XXXYY syndrome	Is a	Anomaly of chromosome Y	true	Inferred relationship	Existential restriction modifier
49,XXXYY syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Existential restriction modifier
49,XXXYY syndrome	Finding site	Sex chromosome Y	false	Inferred relationship	Existential restriction modifier	2
49,XXXYY syndrome	Associated morphology	Aneuploidy	true	Inferred relationship	Existential restriction modifier	1
49,XXXYY syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
49,XXXYY syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
49,XXXYY syndrome	Finding site	Sex chromosome Y	true	Inferred relationship	Existential restriction modifier	1
49,XXXYY syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
49,XXXYY syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
49,XXXYY syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
49,XXXYY syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703371012	49,XXXYY syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3703373010	49,XXXYY syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module