Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3766848015 | Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766849011 | Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3766850011 | PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3766851010 | Multiple congenital anomalies, hypotonia, seizures syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766852015 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Poor muscle tone (finding) | true | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 4 | |
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | 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