360369003: Holocarboxylase synthase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency

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

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Holocarboxylase synthase deficiency	Is a	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Holocarboxylase synthase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Holocarboxylase synthase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Holocarboxylase synthase deficiency	Is a	Biotinidase deficiency (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Holocarboxylase synthase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Holocarboxylase synthase deficiency	Is a	Multiple carboxylase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
476093013	Holocarboxylase synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
740045012	Holocarboxylase synthase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
740045012	Holocarboxylase synthase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
740045012	Holocarboxylase synthase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
3390781001000110	Holocarboxylase-Synthetase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
885261000172112	déficit en holocarboxylase synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
885261000172112	déficit en holocarboxylase synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3390781001000110	Holocarboxylase-Synthetase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module