80887004: Inherited methylmalonic acidemia AND homocystinuria (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited methylmalonic acidemia AND homocystinuria (disorder)

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited methylmalonic acidemia AND homocystinuria (disorder)	Is a	Adenosylcobalamin and methylcobalamin synthesis defect	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited methylmalonic acidemia AND homocystinuria (disorder)	Is a	Homocystinuria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited methylmalonic acidemia AND homocystinuria (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited methylmalonic acidemia AND homocystinuria (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited methylmalonic acidemia AND homocystinuria (disorder)	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited methylmalonic acidemia AND homocystinuria (disorder)	Is a	Hereditary metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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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
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	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
3433681001000114	Methylmalonazidämie mit Homocystinurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6260821000241112	acidémie méthylmalonique héréditaire et homocystinurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6260821000241112	acidémie méthylmalonique héréditaire et homocystinurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433681001000114	Methylmalonazidämie mit Homocystinurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module