Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5483236018 | Mandibuloacral dysplasia progeroid syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5483237010 | Mandibuloacral dysplasia associated to MTX2 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5483238017 | Mandibuloacral dysplasia due to metaxin 2 gene mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5483239013 | MADaM - mandibuloacral dysplasia associated to MTX2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483240010 | Mandibuloacral dysplasia due to metaxin 2 gene mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5483241014 | MDPS - mandibuloacral dysplasia progeroid syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483242019 | A rare primary bone dysplasia characterised by postnatal growth retardation, generalised lipodystrophy, skeletal (delayed closure of sutures, clavicular hypoplasia, dysplastic femoral head, acroosteolysis of distal phalanges, osteopenia/osteoporosis) and cardiac manifestations (including left ventricular hypertrophy, mitral valve calcifications/prolapse/insufficiency and mitral regurgitation), skin changes (atrophic skin, poikiloderma and hyperkeratosis), progeroid traits, and dysmorphic facial features (including prominent eyes, long pinched nose, full cheeks, microstomia and mandibular hypoplasia). Most of the patients also present with sparse body hair, nail dystrophy, joint contracture, hypotonia, hepatosplenomegaly and hypertension. Additional clinical features may include renal glomerulosclerosis and severe proteinuria, recurrent pulmonary infections and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5483243012 | A rare primary bone dysplasia characterized by postnatal growth retardation, generalized lipodystrophy, skeletal (delayed closure of sutures, clavicular hypoplasia, dysplastic femoral head, acroosteolysis of distal phalanges, osteopenia/osteoporosis) and cardiac manifestations (including left ventricular hypertrophy, mitral valve calcifications/prolapse/insufficiency and mitral regurgitation), skin changes (atrophic skin, poikiloderma and hyperkeratosis), progeroid traits, and dysmorphic facial features (including prominent eyes, long pinched nose, full cheeks, microstomia and mandibular hypoplasia). Most of the patients also present with sparse body hair, nail dystrophy, joint contracture, hypotonia, hepatosplenomegaly and hypertension. Additional clinical features may include renal glomerulosclerosis and severe proteinuria, recurrent pulmonary infections and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR