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 |
| 3702468014 | MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3 | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3702469018 | Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3702470017 | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3702471018 | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3702472013 | Congenital disorder of glycosylation due to PIGT deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Metabolic bone disease | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Congenital skeletal dysplasia | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Seizure disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Finding site | Brain structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR