764466009: Mosaic trisomy 14 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 14
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 14
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Mosaic trisomy 14
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 14
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 14
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Mosaic trisomy 14
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 14
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 14

Status: current, Defined. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649965018	Mosaic trisomy 14 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3649966017	Mosaic trisomy 14 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3649967014	Mosaic trisomy chromosome 14	en	Synonym	Active	Case insensitive	SNOMED CT core
3649968016	Trisomy 14 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3649969012	Mosaic trisomy 14	en	Synonym	Active	Case insensitive	SNOMED CT core
3649970013	A rare chromosomal anomaly disorder with a highly variable phenotype. Principle characteristics are growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retrognathia and cleft or highly arched palate.	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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