Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3638529013 | Bone fragillity, contractures, arterial rupture, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638530015 | Connective tissue disorder due to lysyl hydroxylase-3 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638531016 | Bone fragility, contractures, arterial rupture, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638532011 | Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638533018 | Connective tissue disorder due to LH3 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3638535013 | A rare genetic disease caused by lack of lysyl hydroxylase-3 (LH3) activity with characteristics of multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. The disorder is caused by mutation in the PLOD3 gene, which encodes lysyl hydroxylase-3 | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | 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
FHIR