Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723499010 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723500018 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6068521000146115 | ernstige neonatale lactaatacidose door NFS1-ISD11-complexdeficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6108141000146111 | ernstige neonatale melkzuuracidose door NFS1-ISD11-complexdeficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8644571000146117 | ernstige neonatale lactaatacidose door deficiëntie van NFS1-ISD11-complex (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8714121000146111 | ernstige neonatale lactaatacidose door deficiëntie van NFS1-ISD11-complex | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3723501019 | A rare hereditary mitochondrial oxidative phosphorylation disorder characterised by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycaemia, dehydration, vomiting, seizures, and a risk of multiple organ failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723502014 | A rare hereditary mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | Is a | Lactic acidosis | true | Inferred relationship | Some | ||
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | Is a | Neonatal acidosis (disorder) | true | Inferred relationship | Some | ||
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 1 | |
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | Due to | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | 2 | |
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR