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715984007: syndroom van cerebellaire ataxie, hypogonadisme en choroïdale dystrofie (aandoening)


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


0 descendants.

Expanded Value Set


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

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