829974003: syndroom van mozaïekvorm van trisomie 1 (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 1 syndrome

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Mosaic trisomy 1 syndrome
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 1 syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 1 syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 1 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Mosaic trisomy 1 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 1 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 1 syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaic trisomy 1 syndrome	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Mosaic trisomy 1 syndrome	Is a	Anomaly of chromosome pair 1	true	Inferred relationship	Some
Mosaic trisomy 1 syndrome	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic trisomy 1 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic trisomy 1 syndrome	Finding site	Chromosome pair 1	true	Inferred relationship	Some	1
Mosaic trisomy 1 syndrome	Associated morphology	Trisomy	true	Inferred relationship	Some	2
Mosaic trisomy 1 syndrome	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
Mosaic trisomy 1 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Mosaic trisomy 1 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mosaic trisomy 1 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Mosaic trisomy 1 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mosaic 1q duplication	Is a	False	Mosaic trisomy 1 syndrome	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3880153013	Trisomy 1 mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3880154019	Mosaic trisomy 1 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3880155018	Mosaic trisomy 1 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3880156017	Mosaic trisomy chromosome 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10954561000146110	syndroom van mozaïekvorm van trisomie 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10954581000146119	syndroom van mozaïekvorm van trisomie 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11158451000146110	mozaïektrisomie 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11158461000146113	mozaïektrisomie van chromosoom 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11158471000146119	mozaïcisme van trisomie 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3880157014	A rare autosomal trisomy with characteristics of reduced fetal movements and intrauterine growth retardation, low birth weight and multiple congenital anomalies. The latter include amongst others facial dysmorphism (hypertelorism, cleft lip/palate, micrognathia, low hairline, and small low-set and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core