718881004: Chromosome Xq27.3q28 duplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Chromosome Xq27.3q28 duplication syndrome
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Chromosome Xq27.3q28 duplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xq27.3q28 duplication syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Chromosome Xq27.3q28 duplication syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xq27.3q28 duplication syndrome
• \Developmental disorder\Developmental hereditary disorder\Chromosome Xq27.3q28 duplication syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Chromosome Xq27.3q28 duplication syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314293013	Chromosome Xq27.3q28 duplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3314294019	Chromosome Xq27.3q28 duplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3314295018	A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked.	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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