8808004: Biotinidase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Multiple carboxylase deficiency\Biotinidase deficiency

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

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Multiple carboxylase deficiency\Biotinidase deficiency
\trouble métabolique\Inborn error of metabolism\Multiple carboxylase deficiency\Biotinidase deficiency
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Multiple carboxylase deficiency\Biotinidase deficiency

\Congenital disease\Inborn error of metabolism\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

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

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

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

391381000241118 déficit en biotinidase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

931131000172112 déficit multiple en carboxylases par déficit en biotinidase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

969251000172115 déficit en biotinidase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Biotinidase deficiency	est un(e) (attribut)	Multiple carboxylase deficiency	true	Inferred relationship	Some
Biotinidase deficiency	est un(e) (attribut)	Specific enzyme deficiency	false	Inferred relationship	Some
Biotinidase deficiency	est un(e) (attribut)	Inborn error of metabolism	false	Inferred relationship	Some
Biotinidase deficiency	est un(e) (attribut)	Non-amino organic acidemia AND/OR aciduria	false	Inferred relationship	Some
Biotinidase deficiency	est un(e) (attribut)	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Some
Biotinidase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Biotinidase deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Biotinidase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Biotinidase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Holocarboxylase synthase deficiency	est un(e) (attribut)	False	Biotinidase deficiency	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)