80887004: Inherited methylmalonic acidemia AND homocystinuria (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited methylmalonic acidaemia AND homocystinuria

\Metabolic disease\Hereditary metabolic disease\Inherited methylmalonic acidaemia AND homocystinuria
\Metabolic disease\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidaemia AND homocystinuria
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidaemia AND homocystinuria
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Homocystinuria\Inherited methylmalonic acidaemia AND homocystinuria
\Metabolic disease\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidaemia AND homocystinuria
\Metabolic disease\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidaemia AND homocystinuria

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

134168018 Inherited methylmalonic acidemia AND homocystinuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

504532010 CblF - Cobalamin locus F variant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

504533017 Cobalamin locus F variant en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

504534011 CblF methylmalonic acidemia and homocystinuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

504535012 Inherited methylmalonic acidaemia AND homocystinuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

504536013 CblF methylmalonic acidaemia and homocystinuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

822096011 Inherited methylmalonic acidemia AND homocystinuria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited methylmalonic acidaemia AND homocystinuria	Is a	Adenosylcobalamin and methylcobalamin synthesis defect	true	Inferred relationship	Some
Inherited methylmalonic acidaemia AND homocystinuria	Is a	Homocystinuria	true	Inferred relationship	Some
Inherited methylmalonic acidaemia AND homocystinuria	Occurrence	Congenital	false	Inferred relationship	Some
Inherited methylmalonic acidaemia AND homocystinuria	Finding site	Body system structure	false	Inferred relationship	Some
Inherited methylmalonic acidaemia AND homocystinuria	Is a	Hereditary disease	false	Inferred relationship	Some
Inherited methylmalonic acidaemia AND homocystinuria	Is a	Hereditary metabolic disease	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets