FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

42393006: Methylmalonic acidemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
70730010 Methylmalonic acidemia en Synonym Active Entire term case insensitive SNOMED CT core module
493300012 Methylmalonic acidaemia en Synonym Active Entire term case insensitive SNOMED CT core module
779287015 Methylmalonic acidemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1229858012 MMA - Methylmalonic aciduria en Synonym Active Entire term case sensitive SNOMED CT core module

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Methylmalonic acidemia Is a Acidemia true Inferred relationship Existential restriction modifier
Methylmalonic acidemia Is a Non-amino organic acidemia AND/OR aciduria true Inferred relationship Existential restriction modifier
Methylmalonic acidemia Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Existential restriction modifier
Methylmalonic acidemia Is a Disorder of propionate AND/OR methylmalonate metabolism true Inferred relationship Existential restriction modifier
Methylmalonic acidemia Occurrence Congenital false Inferred relationship Existential restriction modifier
Methylmalonic acidemia Finding site Body system structure false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Methylmalonyl-CoA mutase deficiency Is a False Methylmalonic acidemia Inferred relationship Existential restriction modifier
Adenosylcobalamin and methylcobalamin synthesis defect Is a True Methylmalonic acidemia Inferred relationship Existential restriction modifier
Adenosylcobalamin synthesis defect Is a True Methylmalonic acidemia Inferred relationship Existential restriction modifier
Combined malonic and methylmalonic aciduria Is a True Methylmalonic acidemia Inferred relationship Existential restriction modifier
Family history of methylmalonic aciduria Associated finding True Methylmalonic acidemia Inferred relationship Existential restriction modifier 1
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria Is a True Methylmalonic acidemia Inferred relationship Existential restriction modifier
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency Is a True Methylmalonic acidemia Inferred relationship Existential restriction modifier
Methylmalonic aciduria due to transcobalamin receptor defect Is a True Methylmalonic acidemia Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria Is a True Methylmalonic acidemia Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start