718721006: Congenital analbuminemia (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital analbuminaemia
• \Metabolic disease\Hypoproteinaemia\Hypoalbuminaemia\Congenital analbuminaemia
• \Congenital disease\Congenital analbuminaemia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313334013	Congenital analbuminemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313335014	Congenital analbuminemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3313336010	Congenital analbuminaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3313337018	The absence or dramatic reduction of circulating human serum albumin (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protein and has many functions, patients present with only a few mild clinical signs and biochemical abnormalities, HSA is either absent or present at very low levels (<1 g/L) but liver function is normal and there is an absence of conditions leading to significant protein loss. The disorder appears to be more severe in the fetus or during early infancy. Transmitted as an autosomal recessive trait and consanguinity has been shown in all reported cases, the disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA (ALB; 4q13.3).	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

Back to Start