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 |
| 3702468014 | MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3702469018 | Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3702470017 | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702471018 | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702472013 | Congenital disorder of glycosylation due to PIGT deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3702473015 | A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Metabolic bone disease | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR