Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5099597018 | Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099598011 | Alkaline ceramidase 3 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099599015 | ACER3-related early childhood-onset progressive leukodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099600017 | Leukodystrophy due to alkaline ceramidase 3 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099601018 | ACER3-related early childhood-onset progressive leucodystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099602013 | Leucodystrophy due to alkaline ceramidase 3 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13984921000146118 | ACER3-gerelateerde progressieve leukodystrofie beginnend op vroege kinderleeftijd | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13984931000146116 | leukodystrofie door deficiëntie van alkalisch ceramidase 3 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13984941000146112 | leukodystrofie door deficiëntie van alkalisch ceramidase 3 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13984951000146110 | leukodystrofie door ACER3-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5099665013 | A rare genetic disorder with characteristics of infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Is a | Leucodystrophy | true | Inferred relationship | Some | ||
| Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 1 | |
| Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 1 | |
| Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 2 | |
| Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Is a | Hereditary metabolic disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR