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 |
5401661018 | Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401662013 | Lissencephaly syndrome, Norman-Roberts type is characterised by 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
889371000172111 | lissencéphalie type Norman-Roberts | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
957281000172111 | microlissencéphalie type A | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3410231001000114 | Lissenzephalie-Syndrom Typ Norman-Roberts | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Is a | Type 1 lissencephaly | true | Inferred relationship | Some | ||
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Is a | Congenital abnormality of skull and face bones | true | Inferred relationship | Some | ||
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 5 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Finding site | Bone structure of head | false | Inferred relationship | Some | 5 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Associated morphology | anomalie congénitale | false | Inferred relationship | Some | 3 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 4 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 4 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Finding site | Bone structure of head | true | Inferred relationship | Some | 1 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Lissencephaly syndrome, Norman-Roberts type is characterized by 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. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)