Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Apr 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5036088013 | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5036089017 | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 5036090014 | GPAA1-related biosynthesis defect | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5036091013 | Glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Seizure disorder | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Osteopenia | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Hereditary cerebellar degeneration | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Nystagmus | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Interprets | Ocular motility observable | true | Inferred relationship | Existential restriction modifier | 5 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Finding site | Structure of visual system | true | Inferred relationship | Existential restriction modifier | 4 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Associated morphology | Atrophy | true | Inferred relationship | Existential restriction modifier | 1 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Associated morphology | Osteopenia | true | Inferred relationship | Existential restriction modifier | 3 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 7 | |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR