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764463001: Mosaic trisomy 12 syndrome (disorder)

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

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12\Mosaic trisomy 12 syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12\Mosaic trisomy 12 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Mosaic trisomy 12 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12\Mosaic trisomy 12 syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 12 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Mosaic trisomy 12 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12\Mosaic trisomy 12 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 12 syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3649955012 Mosaic trisomy chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3649956013 Trisomy 12 mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3649957016 Mosaic trisomy 12 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3649958014 Mosaic trisomy 12 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3649959018 Mosaic trisomy 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3649960011 A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are developmental or growth delay, short stature, craniofacial dysmorphism (turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry and intellectual disability have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4135261000052112 trisomi 12-mosaiksyndromet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaic trisomy 12 syndrome	Is a	Trisomy 12	true	Inferred relationship	Some
Mosaic trisomy 12 syndrome	Associated morphology	Trisomy	true	Inferred relationship	Some	2
Mosaic trisomy 12 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Mosaic trisomy 12 syndrome	Finding site	Chromosome pair 12	true	Inferred relationship	Some	2
Mosaic trisomy 12 syndrome	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic trisomy 12 syndrome	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
Mosaic trisomy 12 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic trisomy 12 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Mosaic trisomy 12 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mosaic trisomy 12 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

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Characteristic

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Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3649955012	Mosaic trisomy chromosome 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649956013	Trisomy 12 mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649957016	Mosaic trisomy 12 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649958014	Mosaic trisomy 12 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649959018	Mosaic trisomy 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649960011	A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are developmental or growth delay, short stature, craniofacial dysmorphism (turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry and intellectual disability have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4135261000052112	trisomi 12-mosaiksyndromet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)