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1230003009: Heme oxygenase-1 deficiency (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
5066156013 HO-1 (heme oxygenase-1) deficiency en Synonym Active Case sensitive SNOMED CT core
5066157016 Heme oxygenase-1 deficiency en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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