91273001: Lactic acidosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Increased anion gap\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis

\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis

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

151228019 Lactic acidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

834553017 Lactic acidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

911311000195115 acidosi lattica it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

516911000172110 acidose lactique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lactic acidosis	Is a	Metabolic acidosis, IAG, accumulation of organic acids	true	Inferred relationship	Some
Lactic acidosis	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dihydrolipoamide dehydrogenase deficiency	Is a	True	Lactic acidosis	Inferred relationship	Some
Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder)	Is a	False	Lactic acidosis	Inferred relationship	Some
Pyruvate dehydrogenase complex deficiency	Is a	True	Lactic acidosis	Inferred relationship	Some
Infantile encephalopathy AND lactic acidosis	Is a	True	Lactic acidosis	Inferred relationship	Some
Pyruvate carboxylase deficiency	Is a	False	Lactic acidosis	Inferred relationship	Some
Metabolic acidosis due to grain overload (disorder)	Is a	True	Lactic acidosis	Inferred relationship	Some
Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis (disorder)	Associated with	True	Lactic acidosis	Inferred relationship	Some	2
D-lactic acidosis	Is a	True	Lactic acidosis	Inferred relationship	Some
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.	Is a	True	Lactic acidosis	Inferred relationship	Some
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	Is a	True	Lactic acidosis	Inferred relationship	Some
Lactic acidosis due to diabetes mellitus	Is a	True	Lactic acidosis	Inferred relationship	Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is 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.	Is a	True	Lactic acidosis	Inferred relationship	Some
A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported.	Is a	True	Lactic acidosis	Inferred relationship	Some

This concept is not in any reference sets