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 |
| 3755628017 | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755629013 | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 8603251000146117 | syndroom van primaire microcefalie, lichte mentale retardatie en diabetes met aanvang op jonge leeftijd | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8603261000146119 | syndroom van primaire microcefalie, lichte verstandelijke handicap en diabetes met aanvang op jonge leeftijd | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8603271000146113 | syndroom van primaire microcefalie, lichte verstandelijke beperking en diabetes met aanvang op jonge leeftijd (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8603281000146110 | syndroom van primaire microcefalie, lichte verstandelijke beperking en diabetes met aanvang op jonge leeftijd | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3755630015 | A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | microcefalie | false | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Diabetes mellitus associated with genetic syndrome | false | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Mild intellectual disability (disorder) | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Due to | Genetic disease | false | Inferred relationship | Some | 3 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 2 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 3 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Secondary diabetes mellitus | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR