Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3310760010 | Lissencephaly syndrome Norman Roberts type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3310761014 | Lissencephaly syndrome Norman Roberts type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3310762019 | Microlissencephaly type A | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3310763012 | Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Severe intellectual deficit, spasticity and epilepsy are also present. Mutations in the RELN gene (7q22) have been identified in some patients. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 889371000172111 | lissencéphalie type Norman-Roberts | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 957281000172111 | microlissencéphalie type A | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 905121000172117 | microlissencefalie type A | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 961231000172111 | lissencefaliesyndroom, Norman-Roberts-type | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lissencephaly syndrome Norman Roberts type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Lissencephaly syndrome Norman Roberts type (disorder) | Is a | Type 1 lissencephaly | true | Inferred relationship | Some | ||
| Lissencephaly syndrome Norman Roberts type (disorder) | Is a | Congenital abnormality of skull and face bones | true | Inferred relationship | Some | ||
| Lissencephaly syndrome Norman Roberts type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Lissencephaly syndrome Norman Roberts type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Lissencephaly syndrome Norman Roberts type (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Lissencephaly syndrome Norman Roberts type (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 5 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 3 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 4 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Finding site | Bone structure of head | true | Inferred relationship | Some | 1 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Lissencephaly syndrome Norman Roberts type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR