Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3324718015 | Hypergonadotropic hypogonadism with cataract syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324719011 | Hypergonadotropic hypogonadism with cataract syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324720017 | Lubinsky syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3324721018 | Cataract and testicular failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324722013 | Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
879121000172119 | syndrome de Lubinsky | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
920441000172119 | syndrome d'hypogonadisme hypergonadotrope-cataracte | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Is a | Primary hypogonadism (disorder) | true | Inferred relationship | Some | ||
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 2 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 2 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | 3 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 1 | |
Hypergonadotropic hypogonadism with cataract syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
Hypergonadotropic hypogonadism with cataract syndrome (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