767499000: Autosomal recessive congenital methemoglobinemia type I (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Red blood cell disorder\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Blood disease\Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I
• \Disease\Congenital disease\Congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type I

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3672031010	Autosomal recessive congenital methemoglobinemia type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3672032015	Autosomal recessive congenital methemoglobinemia type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3672033013	Autosomal recessive congenital methaemoglobinaemia type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3672034019	In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes.	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

Description inactivation indicator reference set

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