768927001: Trisomy 1q syndrome (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3687513019	Trisomy 1q syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3687514013	Trisomy 1q syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3687515014	Duplication 1q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3687516010	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 1. The syndrome has a highly variable phenotype and principle characteristics of intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (for example ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.	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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