8808004: biotinidasedeficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Multiple carboxylase deficiency\Biotinidase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple carboxylase deficiency\Biotinidase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Multiple carboxylase deficiency\Biotinidase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Multiple carboxylase deficiency\Biotinidase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Multiple carboxylase deficiency\Biotinidase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Multiple carboxylase deficiency\Biotinidase deficiency

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

15536018 Biotinidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

15537010 Juvenile multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

15538017 Late-onset multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

830689012 Biotinidase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1235300016 Multiple carboxylase deficiency - late onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1788204015 Deficiency of biotinidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

338821000146112 biotinidasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

338831000146114 biotinidasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8312531000146111 Erfelijke stofwisselingsziekte. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	Some
Biotinidase deficiency	Is a	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Some
Biotinidase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Biotinidase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Biotinidase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Biotinidase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Biotinidase deficiency	Is a	Specific enzyme deficiency	false	Inferred relationship	Some
Biotinidase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Biotinidase deficiency	Is a	Multiple carboxylase deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Holocarboxylase synthase deficiency	Is a	False	Biotinidase deficiency	Inferred relationship	Some

This concept is not in any reference sets