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 |
| 3723205012 | Nestor Guillermo progeria syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723206013 | Nestor Guillermo progeria syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723207016 | NGPS - Nestor Guillermo progeria syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723208014 | A rare genetic progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723209018 | A rare genetic progeroid syndrome characterised by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalised lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Nestor Guillermo progeria syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Nestor Guillermo progeria syndrome (disorder) | Is a | Osteolysis | true | Inferred relationship | Some | ||
| Nestor Guillermo progeria syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Nestor Guillermo progeria syndrome (disorder) | Associated morphology | Osteolysis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Nestor Guillermo progeria syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Nestor Guillermo progeria syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Nestor Guillermo progeria syndrome (disorder) | Is a | Premature aging syndrome (disorder) | true | Inferred relationship | Some | ||
| Nestor Guillermo progeria syndrome (disorder) | Is a | Metabolic bone disease | true | Inferred relationship | Some | ||
| Nestor Guillermo progeria syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Nestor Guillermo progeria syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Nestor Guillermo progeria syndrome (disorder) | Is a | Disorder involving the integument of fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR