Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723387016 | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3723388014 | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3723389018 | Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 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 | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Finding site | Structure of lens of eye | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Interprets | Muscle tone | true | Inferred relationship | Existential restriction modifier | 5 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Poor muscle tone | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Congenital cataract | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Finding site | Structure of auditory system | true | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Mitochondrial myopathy | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Congenital sensorineural hearing loss | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Interprets | Hearing, function | true | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Associated morphology | Cataract | false | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR