Status: current. Date: 31-Jul 2016
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3308127014 | Joubert syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308128016 | Joubert syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308129012 | Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401438012 | A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401439016 | A rare, autosomal recessive congenital cerebellar ataxia characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Joubert syndrome (disorder) | Is a | Disorder of body system | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Joubert syndrome (disorder) | Is a | Congenital disease | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Joubert syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Joubert syndrome (disorder) | Occurrence | Congenital | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Joubert syndrome (disorder) | Finding site | Body system structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Joubert syndrome with congenital hepatic fibrosis (disorder) | Is a | True | Joubert syndrome (disorder) | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly |
This concept is not in any reference sets
FHIR