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 |
3723420015 | MDP (mandibular hypoplasia, deafness, progeroid) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3723421016 | Mandibular hypoplasia, hearing loss, progeroid syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723422011 | Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723423018 | Mandibular hypoplasia, deafness, progeroid syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723424012 | A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3723425013 | A rare genetic premature ageing disease characterised by sensorineural deafness, generalised lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridaemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4203911000052114 | syndrom av progeroid typ med hypoplasi i underkäken och dövhet | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Congenital micrognathism | true | Inferred relationship | Some | ||
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Metabolic bone disease | true | Inferred relationship | Some | ||
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Premature aging syndrome (disorder) | true | Inferred relationship | Some | ||
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Finding site | Bone structure of mandible | true | Inferred relationship | Some | 1 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 5 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets