1230003009: deficiëntie van hemoxygenase 1 (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Heme oxygenase-1 deficiency (disorder)
• \Hereditary disorder by system\Heme oxygenase-1 deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Heme oxygenase-1 deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Heme oxygenase-1 deficiency (disorder)
• \Disorder of body system\Hematological disorder (disorder)\Heme oxygenase-1 deficiency (disorder)
• \Disorder of body system\Hereditary disorder by system\Heme oxygenase-1 deficiency (disorder)
• \Inflammatory disorder\Heme oxygenase-1 deficiency (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Heme oxygenase-1 deficiency (disorder)
• \Metabolic disease\Disorder of porphyrin metabolism\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
13558801000146110	HMOX1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13558811000146112	deficiëntie van hemoxygenase 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13558821000146119	HO-1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13558831000146117	deficiëntie van hemoxygenase 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13558841000146113	hemoxygenase 1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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