Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
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 | SNOMED CT core module |
3331762018 | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3331763011 | Martsolf syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Hypogonadotropic hypogonadism | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Congenital cataract | true | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Multiple system malformation syndrome | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Reproductive system hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Hereditary disorder of the visual system | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Structure of pars distalis of pituitary | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Gonadal endocrine structure | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Associated morphology | Congenital cataract | false | Inferred relationship | Existential restriction modifier | 3 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Structure of lens of eye | false | Inferred relationship | Existential restriction modifier | 3 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Congenital hypogonadotropic hypogonadism | true | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Structure of pars distalis of pituitary | false | Inferred relationship | Existential restriction modifier | 2 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Structure of pars distalis of pituitary | false | Inferred relationship | Existential restriction modifier | 1 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Gonadal endocrine structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Intellectual disability | false | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Structure of lens of eye | true | Inferred relationship | Existential restriction modifier | 1 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Gonadal endocrine structure | false | Inferred relationship | Existential restriction modifier | 3 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Associated morphology | Cataract | false | Inferred relationship | Existential restriction modifier | 1 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Finding site | Structure of pars distalis of pituitary | true | Inferred relationship | Existential restriction modifier | 3 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Congenital malformation of anterior pituitary | true | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | Congenital anomaly of endocrine gonad | true | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Is a | RAB18, member RAS oncogene family deficiency | true | Inferred relationship | Existential restriction modifier | ||
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 4 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets