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

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

\Genetic disease\Hereditary disease\...

\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)

\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 (disorder)

\Developmental disorder\Developmental hereditary disorder\Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)
\Developmental disorder\Developmental delay\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

4346041000052115 försenad utveckling orsakad av brist på metylmalonatsemialdehyddehydrogenas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	Is a	Global developmental delay	true	Inferred relationship	Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Reference Sets

GB English

US English

Back to Start

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
4346041000052115	försenad utveckling orsakad av brist på metylmalonatsemialdehyddehydrogenas	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)