764629008: syndroom van mozaïekvorm van trisomie 5 (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 5 syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Mosaic trisomy 5 syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 5 syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 5 syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 5 syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Mosaic trisomy 5 syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 5 syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 5 syndrome (disorder)

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 5 syndrome (disorder)	Is a	Anomaly of chromosome pair 5	true	Inferred relationship	Some
Mosaic trisomy 5 syndrome (disorder)	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Mosaic trisomy 5 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Mosaic trisomy 5 syndrome (disorder)	Finding site	Chromosome pair 5	true	Inferred relationship	Some	2
Mosaic trisomy 5 syndrome (disorder)	Associated morphology	Chromosome mosaicism	false	Inferred relationship	Some	2
Mosaic trisomy 5 syndrome (disorder)	Finding site	Chromosome pair 5	true	Inferred relationship	Some	1
Mosaic trisomy 5 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic trisomy 5 syndrome (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some	1
Mosaic trisomy 5 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mosaic trisomy 5 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Mosaic trisomy 5 syndrome (disorder)	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic trisomy 5 syndrome (disorder)	Associated morphology	Trisomy	true	Inferred relationship	Some	2
Mosaic trisomy 5 syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3654265019	Trisomy 5 mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654266018	Mosaic trisomy 5 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654267010	Mosaic trisomy 5 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654268017	Mosaic trisomy chromosome 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7978311000146115	mozaïektrisomie van chromosoom 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7978321000146113	mozaïektrisomie 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724381000146117	syndroom van mozaïekvorm van trisomie 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724401000146117	mozaïcisme van trisomie 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8724411000146115	syndroom van mozaïekvorm van trisomie 5 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3654269013	A rare chromosomal anomaly syndrome with a variable phenotype. Manifestations range from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core