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 |
| 769221000241111 | syndrome de choriorétinopathie-microcéphalie autosomique récessive (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 920181000172118 | syndrome de choriorétinopathie, microcéphalie, déficience intellectualle autosomique récessive | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 954791000172114 | syndrome de choriorétinopathie-microcéphalie autosomique récessive | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of visual system (body structure) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR