767499000: Autosomal recessive congenital methemoglobinemia type I (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I
• \Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I
• \Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I
• \Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I
• \Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I
• \Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I
• \Congenital disease (disorder)\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methemoglobinemia type I

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3672032015	Autosomal recessive congenital methemoglobinemia type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3672033013	Autosomal recessive congenital methaemoglobinaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4153641000052110	autosomalt recessiv kongenital methemoglobinemi, typ I	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

GB English

US English

Back to Start