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 |
| 3723387016 | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723388014 | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723389018 | Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723390010 | A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Interprets | Muscle tone | true | Inferred relationship | Some | 5 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Poor muscle tone (finding) | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Associated morphology | Cataract | false | Inferred relationship | Some | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | 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