773423007: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of neonate\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal acidosis\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal acidosis\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
• \Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Neonatal acidosis\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Neonatal acidosis\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis (disorder)\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis (disorder)\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)

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
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
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
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
3417161001000111	Schwere neonatale Laktatazidose durch NFS1-ISD11-Komplex-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
930401000172118	acidose lactique néonatale sévère par déficit en complexe NFS1-ISD11	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
930401000172118	acidose lactique néonatale sévère par déficit en complexe NFS1-ISD11	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3417161001000111	Schwere neonatale Laktatazidose durch NFS1-ISD11-Komplex-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start