Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304320011 | Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304321010 | Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3307451011 | Boucher Neuhäuser syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6945811000146118 | syndroom van cerebellaire ataxie, hypogonadisme en choroïdale dystrofie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6945821000146111 | syndroom van cerebellaire ataxie, hypogonadisme en choroïdale dystrofie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6945831000146113 | syndroom van cerebellaire ataxie, hypogonadisme en dystrofie van choroidea | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3304323013 | A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Hypogonadism | false | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Hereditary choroidal dystrophy | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Choroidal structure | false | Inferred relationship | Some | 3 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | 2 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 4 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Choroidal structure | true | Inferred relationship | Some | 1 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Hypogonadotropic hypogonadism | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Chronic disease of genitourinary system | true | Inferred relationship | Some | ||
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 3 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 4 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 5 | |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets