38847009: 49,XXXXY-syndroom (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\XXXXY syndrome

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\XXXXY syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

65166019 XXXXY syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

775188012 XXXXY syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1462671000146110 XXXXY-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3625211000146111 karyotype 49,XXXXY nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3625221000146118 49,XXXXY-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3625231000146116 49,XXXXY-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
XXXXY syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
XXXXY syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
XXXXY syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
XXXXY syndrome	Occurrence	Congenital	false	Inferred relationship	Some
XXXXY syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
XXXXY syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
XXXXY syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
XXXXY syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
XXXXY syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
XXXXY syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
XXXXY syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
XXXXY syndrome	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
XXXXY syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets