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 |
| 3671994016 | Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3671995015 | Congenital NADH-methaemoglobin reductase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3672000015 | Congenital NADH-methemoglobin reductase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3672001016 | Cytochrome b5 reductase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3672016018 | Congenital methaemoglobinaemia due to NADH-cytochrome b5 reductase 3 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3672017010 | NADH-methaemoglobin reductase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3672018017 | NADH-methemoglobin reductase deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3672019013 | Chronic familial methemoglobin reductase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3672020019 | Chronic familial methaemoglobin reductase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3672024011 | Autosomal recessive congenital methemoglobinemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3672025012 | Autosomal recessive congenital methemoglobinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3672026013 | Autosomal recessive congenital methaemoglobinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3672027016 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive congenital methemoglobinemia (disorder) | Is a | Hereditary red blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive congenital methemoglobinemia (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 1 | |
| Autosomal recessive congenital methemoglobinemia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive congenital methemoglobinemia (disorder) | Is a | Congenital methemoglobinemia | true | Inferred relationship | Some | ||
| Autosomal recessive congenital methemoglobinemia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal recessive congenital methaemoglobinaemia type II | Is a | True | Autosomal recessive congenital methemoglobinemia (disorder) | Inferred relationship | Some | |
| Autosomal recessive congenital methemoglobinemia type I | Is a | True | Autosomal recessive congenital methemoglobinemia (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR