829974003: Mosaic trisomy 1 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 1 syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 1 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Mosaic trisomy 1 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 1 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 1 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Mosaic trisomy 1 syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 1 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 1 syndrome

Status: current, Defined. Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3880153013	Trisomy 1 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3880154019	Mosaic trisomy 1 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3880155018	Mosaic trisomy 1 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3880156017	Mosaic trisomy chromosome 1	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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