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11282001: Homocystinuria (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
19556013 Homocystinuria en Synonym Active Entire term case insensitive SNOMED CT core module
643881012 Homocystinuria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Homocystinuria Is a Disorder of sulfur-bearing amino acid metabolism true Inferred relationship Existential restriction modifier
Homocystinuria Finding site Body system structure false Inferred relationship Existential restriction modifier
Homocystinuria Occurrence Congenital false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Homocystinuria vitamin B12-responsive type III Is a True Homocystinuria Inferred relationship Existential restriction modifier
Cystathionine beta-synthase deficiency Is a False Homocystinuria Inferred relationship Existential restriction modifier
Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria Is a True Homocystinuria Inferred relationship Existential restriction modifier
Inherited methylmalonic acidemia AND homocystinuria Is a True Homocystinuria Inferred relationship Existential restriction modifier
Homocystinuria without methylmalonic aciduria Is a True Homocystinuria Inferred relationship Existential restriction modifier
Dystonia due to homocystinuria Due to True Homocystinuria Inferred relationship Existential restriction modifier 3
Blood spot homocystinuria screening test Has focus True Homocystinuria Inferred relationship Existential restriction modifier 3
Suspected homocystinuria Associated finding True Homocystinuria Inferred relationship Existential restriction modifier 1
Homocystinuria not suspected Associated finding True Homocystinuria Inferred relationship Existential restriction modifier 1
Homocystinuria not suspected and other disorders follow up required Associated finding True Homocystinuria Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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