763274002: Distal trisomy 5q 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 5\Partial trisomy of long arm of chromosome 5\Distal trisomy 5q syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\Distal trisomy 5q syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\Distal trisomy 5q syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\Distal trisomy 5q syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 5q syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\Distal trisomy 5q syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5\Distal trisomy 5q syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 5q syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638354014	Distal duplication 5q	en	Synonym	Active	Case insensitive	SNOMED CT core
3638356011	Distal trisomy 5q	en	Synonym	Active	Case insensitive	SNOMED CT core
4565137011	Distal trisomy 5q syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4565138018	Distal trisomy 5q syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638357019	A rare chromosomal anomaly syndrome resulting from a partial duplication of the long arm of chromosome 5. The disorder has characteristics of short stature, moderate intellectual disability, craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).	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

Description inactivation indicator reference set

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