782828005: Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
• \Developmental disorder\Developmental hereditary disorder\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
• \Developmental disorder\Developmental delay\Global developmental delay\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756096016	Developmental delay due to ALDH6A1 (aldehyde dehydrogenase 6 family member A1) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3756097013	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3756098015	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3756099011	Developmental delay due to MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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