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 |
11830341000172119 | retard développemental dû à un déficit en MMSDH (methylmalonate semialdehyde dehydrogenase) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
11830351000172117 | retard de développement dû à un déficit en méthylmalonate semialdéhyde déshydrogénase | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
11830361000172115 | retard de développement dû à un déficit en ALDH6A1 (aldehyde dehydrogenase 6 family, member A1) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4779461000172110 | ontwikkelingsachterstand door deficiëntie van methylmalonaatsemialdehydedehydrogenase | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4779471000172118 | ontwikkelingsachterstand door MMSDH-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4779481000172115 | ontwikkelingsachterstand gerelateerd aan ALDH6A1 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
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 | Refinability | Group |
Reference Sets