Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3725348019 | Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725349010 | Progeroid and marfanoid aspect, lipodystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 771751000241119 | syndrome d'apparence progéroïde et marfanoïde-lipodystrophie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 886591000172111 | syndrome d'apparence progéroïde et marfanoïde-lipodystrophie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3725350010 | A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725351014 | A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of subcutaneous tissue (disorder) | true | Inferred relationship | Some | ||
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | est un(e) (attribut) | Premature aging syndrome (disorder) | true | Inferred relationship | Some | ||
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | localisation d'une constatation (attribut) | Subcutaneous fatty tissue | true | Inferred relationship | Some | 1 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | est un(e) (attribut) | Marfan's syndrome | true | Inferred relationship | Some | ||
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | est un(e) (attribut) | Genetic lipodystrophy (disorder) | true | Inferred relationship | Some | ||
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | est un(e) (attribut) | affection congénitale du tissu conjonctif | true | Inferred relationship | Some | ||
| Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR