Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3438536016 | Craniolenticulosutural dysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3438537013 | Craniolenticulosutural dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3438538015 | Boyadjiev Jabs syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 760831000241118 | dysplasie cranio-lenticulo-suturale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 895331000172110 | dysplasie cranio-lenticulo-suturale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 937361000172112 | syndrome de Boyadjiev-Jabs | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3438539011 | Syndrome that is characterized by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3438540013 | Syndrome that is characterised by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalised skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary haemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR