Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5045341012 | Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045342017 | Microcephalic primordial dwarfism, insulin resistance syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399966010 | A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399967018 | A rare genetic disease characterised by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridaemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Is a | Primordial dwarfism | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Is a | Hypogonadism | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Is a | Insulin resistance (disorder) | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 4 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Interprets | Body height (observable entity) | true | Inferred relationship | Some | 2 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 3 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR