70324008: syndroom van partiële trisomie 15q (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

116814019 15q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

810368017 15q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7949601000146117 syndroom van partiële trisomie 15q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7949611000146115 syndroom van partiële trisomie 15q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7949621000146113 partiële trisomie van chromosoom 15q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7949631000146110 partiële trisomie van lange arm van chromosoom 15 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndroom van partiële trisomie 15q	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
syndroom van partiële trisomie 15q	Is a	Anomaly of chromosome pair 15	false	Inferred relationship	Some
syndroom van partiële trisomie 15q	Associated morphology	Trisomy	false	Inferred relationship	Some
syndroom van partiële trisomie 15q	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
syndroom van partiële trisomie 15q	Occurrence	Congenital	false	Inferred relationship	Some
syndroom van partiële trisomie 15q	Finding site	Sex chromosome	false	Inferred relationship	Some
syndroom van partiële trisomie 15q	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
syndroom van partiële trisomie 15q	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
syndroom van partiële trisomie 15q	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
syndroom van partiële trisomie 15q	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
syndroom van partiële trisomie 15q	Occurrence	Congenital	false	Inferred relationship	Some	1
syndroom van partiële trisomie 15q	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
syndroom van partiële trisomie 15q	Associated morphology	Partial trisomy	false	Inferred relationship	Some	1
syndroom van partiële trisomie 15q	Is a	Partial trisomy of chromosome 15 (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
15q11q13 microduplication syndrome (disorder)	Is a	False	syndroom van partiële trisomie 15q	Inferred relationship	Some
15q13.3 microduplication syndrome (disorder)	Is a	False	syndroom van partiële trisomie 15q	Inferred relationship	Some
15q overgrowth syndrome	Is a	False	syndroom van partiële trisomie 15q	Inferred relationship	Some
maternale 15q11q13-deletie	Is a	False	syndroom van partiële trisomie 15q	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)