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 |
| 10664051000146113 | ontwikkelingsachterstand door MMSDH-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 11713511000146116 | ontwikkelingsachterstand door deficiëntie van methylmalonaatsemialdehydedehydrogenase | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 11713521000146114 | ontwikkelingsachterstand gerelateerd aan ALDH6A1 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 11713531000146111 | ontwikkelingsachterstand door deficiëntie van methylmalonaatsemialdehydedehydrogenase (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 |
| 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 | ||
| Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) | Due to | Methylmalonate semialdehyde dehydrogenase deficiency | true | Inferred relationship | Some | 2 | |
| Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR