764461004: syndroom van mozaïekvorm van trisomie 10 (aandoening)

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

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

\Congenital malformation\Mosaic trisomy 10 syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10 (disorder)\Mosaic trisomy 10 syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Mosaic trisomy 10 syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Mosaic trisomy 10 syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Mosaic trisomy 10 syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10 (disorder)\Mosaic trisomy 10 syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Mosaic trisomy 10 syndrome (disorder)

\Developmental disorder\Congenital malformation\Mosaic trisomy 10 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 10 syndrome (disorder)	Is a	Trisomy 10 (disorder)	true	Inferred relationship	Some
Mosaic trisomy 10 syndrome (disorder)	Associated morphology	Trisomy	true	Inferred relationship	Some	2
Mosaic trisomy 10 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Mosaic trisomy 10 syndrome (disorder)	Finding site	Chromosome pair 10 (cell structure)	true	Inferred relationship	Some	2
Mosaic trisomy 10 syndrome (disorder)	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic trisomy 10 syndrome (disorder)	Finding site	Chromosome pair 10 (cell structure)	true	Inferred relationship	Some	1
Mosaic trisomy 10 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic trisomy 10 syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Mosaic trisomy 10 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mosaic trisomy 10 syndrome (disorder)	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

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Id	Description	Lang	Type	Status	Case?	Module
3649942011	Mosaic trisomy 10 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649943018	Mosaic trisomy 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649944012	Mosaic trisomy 10 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649945013	Mosaic trisomy chromosome 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649946014	Trisomy 10 mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7976191000146112	mozaïektrisomie 10	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7976421000146117	mozaïektrisomie van chromosoom 10	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8723921000146117	syndroom van mozaïekvorm van trisomie 10 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8723931000146115	syndroom van mozaïekvorm van trisomie 10	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8723991000146119	mozaïcisme van trisomie 10	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3649954011	A rare chromosomal anomaly syndrome with a highly variable phenotype. The principle characteristics are growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (radial ray defects, scoliosis) malformations. Death usually occurs neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, facial clefts and anal atresia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core