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 |
| 3756085012 | Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756086013 | Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756087016 | A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 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 |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Occurrence | Infancy | true | Inferred relationship | Some | 2 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Occurrence | Infancy | true | Inferred relationship | Some | 3 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Epileptic encephalopathy (disorder) | false | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Permanent neonatal diabetes mellitus (disorder) | true | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Finding site | Cerebrum | false | Inferred relationship | Some | 3 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 2 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 3 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some | ||
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR