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 |
| 3331761013 | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331762018 | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331763011 | Martsolf syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331764017 | Syndrome with the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Mutations in the RAB3GAP2 gene have been identified in some patients. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital malformation of anterior pituitary | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of endocrine gonad (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | RAB18, member RAS oncogene family deficiency (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | hypogonadisme hypogonadotrope (trouble) | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 3 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | 1 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | est un(e) (attribut) | Intellectual disability | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR