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1230003009: Heme oxygenase-1 deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5066155012 Heme oxygenase-1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5066156013 HO-1 (heme oxygenase-1) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5066157016 Heme oxygenase-1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5066158014 A rare inborn error of metabolism characterised by congenital asplenia and childhood or adolescent onset of generalised inflammation, persistent intravascular haemolysis and anaemia, severe endothelial injury with abnormal coagulation, bleeding diathesis and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism and hepatomegaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5066159018 A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism and hepatomegaly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5627931000052112 brist på hemoxigenas-1 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Heme oxygenase-1 deficiency (disorder) Is a Inflammatory disorder true Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) Is a Disorder of porphyrin metabolism true Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) Is a Hereditary disorder by system true Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) Is a Inborn error of metabolism true Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) Occurrence Congenital true Inferred relationship Some 2
Heme oxygenase-1 deficiency (disorder) Finding site Structure of hematological system (body structure) true Inferred relationship Some 3
Heme oxygenase-1 deficiency (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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