767498008: Autosomal recessive congenital methemoglobinemia type II (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Red blood cell disorder\Haemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Haemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
• \Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II

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
3672028014	Autosomal recessive congenital methaemoglobinaemia type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3672029018	Autosomal recessive congenital methemoglobinemia type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3672030011	Autosomal recessive congenital methemoglobinemia type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3672028014	Autosomal recessive congenital methaemoglobinaemia type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3672029018	Autosomal recessive congenital methemoglobinemia type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3672030011	Autosomal recessive congenital methemoglobinemia type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5766971000241114	méthémoglobinémie congénitale autosomique récessive de type II	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5766971000241114	méthémoglobinémie congénitale autosomique récessive de type II	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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