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

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Developmental hereditary disorder\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)
• \trouble métabolique\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 (disorder)
• \trouble du développement\Developmental hereditary disorder\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)
• \trouble du développement\retard de développement\Global developmental delay\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756096016	Developmental delay due to ALDH6A1 (aldehyde dehydrogenase 6 family member A1) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3756097013	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756098015	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756099011	Developmental delay due to MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3756100015	A rare genetic inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype. Typical characteristics are mild to severe global developmental delay, elevated methylmalonic acid and occasionally lactic acid plasma levels and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (for example beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure and central nervous system abnormalities on MRI have also been reported. Caused by homozygous or compound heterozygous mutation in the ALDH6A1 gene on chromosome 14q24.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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