767498008: Autosomal recessive congenital methemoglobinemia type II (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 II
• \Red blood cell disorder\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II
• \Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II
• \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 II
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Blood disease\Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II
• \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 II
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Methaemoglobinaemia\Congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Congenital disease\Congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia\Autosomal recessive congenital methaemoglobinaemia type II

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3672028014	Autosomal recessive congenital methaemoglobinaemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3672029018	Autosomal recessive congenital methemoglobinemia type II (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3672030011	Autosomal recessive congenital methemoglobinemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3672035018	Type 2 is much more severe than Type I, cyanosis is accompanied by neurological dysfunction with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia, which usually becomes evident during the first four months of life. Caused by global loss of Cb5R function.	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

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