Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3499660017 | Congenital disorder of glycosylation type 1q (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3499661018 | SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation | en | Synonym | Active | Case sensitive | SNOMED CT core |
3499662013 | Congenital disorder of glycosylation type 1q | en | Synonym | Active | Case insensitive | SNOMED CT core |
3499663015 | Congenital disorder of glycosylation type Iq | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3500033011 | A rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency with a highly variable phenotype. The disease typically presents with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. Caused by homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Unit of use size reference set
Description inactivation indicator reference set