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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. 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
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
3438981001000113 Entwicklungsverzögerung durch Methylmalonat-Semialdehyd-Dehydrogenase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075951000241119 retard développemental dû à un déficit en MMSDH (methylmalonate semialdehyde dehydrogenase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075961000241116 retard de développement dû à un déficit en méthylmalonate semialdéhyde déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075971000241112 retard de développement dû à un déficit en ALDH6A1 (aldehyde dehydrogenase 6 family, member A1) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075951000241119 retard développemental dû à un déficit en MMSDH (methylmalonate semialdehyde dehydrogenase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075961000241116 retard de développement dû à un déficit en méthylmalonate semialdéhyde déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6075971000241112 retard de développement dû à un déficit en ALDH6A1 (aldehyde dehydrogenase 6 family, member A1) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438981001000113 Entwicklungsverzögerung durch Methylmalonat-Semialdehyd-Dehydrogenase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a Global developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Due to Methylmalonate semialdehyde dehydrogenase deficiency true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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