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 |
| 5402662010 | A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402663017 | A rare syndromic endocrine disease characterised by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Is a | Primary hypogonadism (disorder) | true | Inferred relationship | Some | ||
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 2 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Finding site | Lens clear | false | Inferred relationship | Some | 2 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | 3 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Associated morphology | Katarakt | false | Inferred relationship | Some | 1 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. | 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)
FHIR