11282001: Homocystinuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\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

19556013 Homocystinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

643881012 Homocystinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4426811000241115 homocystinurie 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
Homocystinuria	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Homocystinuria	Finding site	Body system structure	false	Inferred relationship	Some
Homocystinuria	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homocystinuria vitamin B12-responsive type III	Is a	True	Homocystinuria	Inferred relationship	Some
Cystathionine beta-synthase deficiency	Is a	False	Homocystinuria	Inferred relationship	Some
Methylene THF reductase deficiency AND homocystinuria	Is a	True	Homocystinuria	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	Is a	True	Homocystinuria	Inferred relationship	Some
Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).	Is a	True	Homocystinuria	Inferred relationship	Some
Dystonia due to homocystinuria (disorder)	Due to	True	Homocystinuria	Inferred relationship	Some	3

This concept is not in any reference sets