829974003: Mosaic trisomy 1 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\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
• \Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 1 syndrome
• \Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Mosaic trisomy 1 syndrome
• \Congenital disease (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:

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
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
4681261000172114	mozaïcisme van trisomie 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4681271000172117	mozaïektrisomie 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4681281000172119	syndroom van mozaïekvorm van trisomie 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4681291000172116	mozaïektrisomie van chromosoom 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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