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1172966001: Multiple carboxylase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

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

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

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

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

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4636757018 Multiple carboxylase deficiency en Synonym Active Case insensitive SNOMED CT core

4636758011 Multiple carboxylase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4636964014 A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. en Definition Active Case sensitive SNOMED CT core

4636974012 A group of inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple carboxylase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Multiple carboxylase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Multiple carboxylase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Multiple carboxylase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple carboxylase deficiency	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some

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

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
4636757018	Multiple carboxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4636758011	Multiple carboxylase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4636964014	A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.	en	Definition	Active	Case sensitive	SNOMED CT core
4636974012	A group of inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.	en	Definition	Active	Case sensitive	SNOMED CT core