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8808004: Biotinidase deficiency (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
15536018 Biotinidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
15537010 Juvenile multiple carboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
15538017 Late-onset multiple carboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
830689012 Biotinidase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1235300016 Multiple carboxylase deficiency - late onset en Synonym Active Entire term case insensitive SNOMED CT core module
1788204015 Deficiency of biotinidase en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Biotinidase deficiency Is a Non-amino organic acidemia AND/OR aciduria false Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a Disorder of branched-chain amino acid metabolism false Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a Enzymopathy false Inferred relationship Existential restriction modifier
Biotinidase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Biotinidase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a Specific enzyme deficiency false Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a Inborn error of metabolism false Inferred relationship Existential restriction modifier
Biotinidase deficiency Is a Multiple carboxylase deficiency true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Holocarboxylase synthase deficiency Is a False Biotinidase deficiency Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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