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

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

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3723500018	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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