764621006: syndroom van mozaïekvorm van trisomie 16 (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 16 syndrome

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Mosaic trisomy 16 syndrome
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 16 syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 16 syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 16 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Mosaic trisomy 16 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 16 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 16 syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaic trisomy 16 syndrome	Is a	Anomaly of chromosome pair 16	true	Inferred relationship	Some
Mosaic trisomy 16 syndrome	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Mosaic trisomy 16 syndrome	Associated morphology	Chromosome mosaicism	false	Inferred relationship	Some	2
Mosaic trisomy 16 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Mosaic trisomy 16 syndrome	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
Mosaic trisomy 16 syndrome	Finding site	Chromosome pair 16	true	Inferred relationship	Some	1
Mosaic trisomy 16 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic trisomy 16 syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some	1
Mosaic trisomy 16 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Mosaic trisomy 16 syndrome	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic trisomy 16 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mosaic trisomy 16 syndrome	Associated morphology	Trisomy	true	Inferred relationship	Some	2
Mosaic trisomy 16 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	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
3654222015	Mosaic trisomy 16 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654223013	Trisomy 16 mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654224019	Mosaic trisomy 16 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654225018	Mosaic trisomy chromosome 16	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7976931000146113	mozaïektrisomie 16	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7976951000146119	mozaïektrisomie van chromosoom 16	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724091000146117	mozaïcisme van trisomie 16	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724101000146112	syndroom van mozaïekvorm van trisomie 16 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724111000146114	syndroom van mozaïekvorm van trisomie 16	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3654226017	A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations range from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (ventricular septal defect) and genital (hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core