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 |
| 3700710018 | Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3700711019 | Autosomal recessive chorioretinopathy and microcephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3700712014 | Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3700713016 | A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | 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