360369003: deficiëntie van holocarboxylasesynthase (aandoening)

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 (disorder)\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 of amino acid metabolism\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:

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

11739661000146111 deficiëntie van holocarboxylasesynthase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11739671000146117 deficiëntie van holocarboxylasesynthase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11739681000146115 HCS-deficiëntie nl Synonym (core metadata concept) 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
Holocarboxylase synthase deficiency	Is a	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Some
Holocarboxylase synthase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Holocarboxylase synthase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Holocarboxylase synthase deficiency	Is a	Biotinidase deficiency	false	Inferred relationship	Some
Holocarboxylase synthase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Holocarboxylase synthase deficiency	Is a	Multiple carboxylase deficiency	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets