Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5438366012 | Aromatic L-amino acid decarboxylase deficiency disorder (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5438367015 | AADC (aromatic L-amino acid decarboxylase) deficiency disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5438368013 | Aromatic L-amino acid decarboxylase deficiency disorder | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5438369017 | A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5438370016 | A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterised by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Aromatic L-amino acid decarboxylase deficiency disorder (disorder) | Is a | Disorder of catecholamine synthesis | true | Inferred relationship | Some | ||
| Aromatic L-amino acid decarboxylase deficiency disorder (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Aromatic L-amino acid decarboxylase deficiency disorder (disorder) | Due to | Deficiency of aromatic-L-amino-acid decarboxylase | true | Inferred relationship | Some | 1 | |
| Aromatic L-amino acid decarboxylase deficiency disorder (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Aromatic L-amino acid decarboxylase deficiency disorder (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Aromatic L-amino acid decarboxylase deficiency disorder (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR