360369003: Holocarboxylase synthase deficiency (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency

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

\Congenital disease\Inborn error of metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase 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

3957559014 Neonatal multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3957560016 Early-onset multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

476093013 Holocarboxylase synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

609311000241118 déficit en holocarboxylase synthétase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

740045012 Holocarboxylase synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

885261000172112 déficit en holocarboxylase synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

964571000172114 déficit multiple en carboxylases par déficit en holocarboxylase synthétase 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
Holocarboxylase synthase deficiency	est un(e) (attribut)	Biotinidase deficiency	false	Inferred relationship	Some
Holocarboxylase synthase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Holocarboxylase synthase deficiency	est un(e) (attribut)	Multiple carboxylase deficiency	true	Inferred relationship	Some
Holocarboxylase synthase deficiency	est un(e) (attribut)	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Some
Holocarboxylase synthase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Holocarboxylase synthase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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)