FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

765137006: Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\Disease\...
    • \Genetic disease\Hereditary disease\...
      • \Hereditary metabolic disease\Inborn error of metabolism\Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
      • \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
    • \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657144012 Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657145013 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657146014 Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657148010 Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657149019 Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657150019 Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657151015 Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5316189013 MCEE-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5316190016 MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404482016 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404483014 Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657144012 Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657145013 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657146014 Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657148010 Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657149019 Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657150019 Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3657151015 Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5316189013 MCEE-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5316190016 MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657147017 A rare inborn error of metabolism disease with characteristics of mild to moderate persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms or the disease may also be asymptomatic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404482016 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404483014 Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3449121001000119 Methylmalonazidämie durch Methylmalonyl-CoA-Epimerase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449121001000119 Methylmalonazidämie durch Methylmalonyl-CoA-Epimerase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Is a Methylmalonic acidemia true Inferred relationship Existential restriction modifier (core metadata concept)
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Due to Deficiency of methylmalonyl-coenzyme A epimerase (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start