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 (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\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\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II

\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 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 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 methaemoglobinaemia type II
\Disease\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 methaemoglobinaemia type II
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
\Disease\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 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\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia\Autosomal recessive congenital methemoglobinemia (disorder)\Autosomal recessive congenital methaemoglobinaemia type II
\Disease\Congenital disease (disorder)\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

10011321000172118 méthémoglobinémie congénitale autosomique récessive de type II fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4695161000172118 hereditaire methemoglobinemie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4695171000172110 autosomaal recessieve congenitale methemoglobinemie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive congenital methaemoglobinaemia type II	Is a	Autosomal recessive congenital methemoglobinemia (disorder)	true	Inferred relationship	Some
Autosomal recessive congenital methaemoglobinaemia type II	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive congenital methaemoglobinaemia type II	Finding site	Erythrocyte	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
10011321000172118	méthémoglobinémie congénitale autosomique récessive de type II	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4695161000172118	hereditaire methemoglobinemie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4695171000172110	autosomaal recessieve congenitale methemoglobinemie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)