718721006: Congenital analbuminemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).

\Fetal and/or neonatal disorder\Congenital disease\Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).

\Metabolic disease\Hypoproteinemia\Reduced serum albumin concentration\Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5401839013 Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401840010 Congenital analbuminemia (CAA) is characterised by the absence or dramatic reduction of circulating human serum albumin (HSA). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3313334013 Congenital analbuminemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313335014 Congenital analbuminemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313336010 Congenital analbuminaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

891351000172116 analbuminémie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3430991001000114 Analbuminämie, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).	Is a	Congenital disease	true	Inferred relationship	Some
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).	Is a	Reduced serum albumin concentration	true	Inferred relationship	Some
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)