267550008: Congenital methemoglobinemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital methemoglobinemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Methemoglobinemia\Congenital methemoglobinemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

399255019 Congenital methemoglobinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

399256018 Congenital methaemoglobinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

660181015 Congenital methemoglobinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2241191000005110 kongenit methæmoglobinæmi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital methemoglobinemia	Is a	Methemoglobinemia	true	Inferred relationship	Some
Congenital methemoglobinemia	Finding site	Erythrocyte	true	Inferred relationship	Some	2
Congenital methemoglobinemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital methemoglobinemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital methemoglobinemia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Congenital methemoglobinemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital methemoglobinemia	Is a	Congenital disease	true	Inferred relationship	Some
Congenital methemoglobinemia	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital methaemoglobinaema with defective methaemoglobin-reducing system	Is a	True	Congenital methemoglobinemia	Inferred relationship	Some
Congenital methemoglobinemia with abnormal methemoglobins	Is a	True	Congenital methemoglobinemia	Inferred relationship	Some
Hereditær methæmoglobinæmi, enzymatisk type	Is a	False	Congenital methemoglobinemia	Inferred relationship	Some
Hereditary methemoglobinemia due to globin chain mutation (disorder)	Is a	True	Congenital methemoglobinemia	Inferred relationship	Some
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the 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. RCM type 1 is 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. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site.	Is a	True	Congenital methemoglobinemia	Inferred relationship	Some

This concept is not in any reference sets