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720519003: syndroom van atherosclerose, doofheid, diabetes, epilepsie en nefropathie (aandoening)


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
3321113016 Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321114010 Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321115011 Feigenbaum Bergeron Richardson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6138421000146117 syndroom van Feigenbaum-Bergeron-Richardson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6690341000146112 syndroom van atherosclerose, doofheid, diabetes, epilepsie en nefropathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6690361000146113 syndroom van atherosclerose, doofheid, diabetes, epilepsie en nefropathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3321116012 This syndrome has characteristics of sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. 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
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Due to Genetic syndrome false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Diabetes mellitus associated with genetic syndrome false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Epilepsy true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Atherosclerosis of artery true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Kidney structure false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Cerebrum true Inferred relationship Some 5
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Ear structure false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Has definitional manifestation Seizure false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Associated morphology Atherosclerosis false Inferred relationship Some 7
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Arterial structure false Inferred relationship Some 7
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Congenital vascular disorder (disorder) false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Kidney structure false Inferred relationship Some 1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Associated morphology Atherosclerosis false Inferred relationship Some 2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Arterial structure false Inferred relationship Some 2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Some 3
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Due to Genetic disease false Inferred relationship Some 4
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 6
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Interprets Hearing false Inferred relationship Some 7
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Secondary diabetes mellitus true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 4
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Interprets Hearing true Inferred relationship Some 2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Arterial structure true Inferred relationship Some 1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Associated morphology Atherosclerosis true Inferred relationship Some 1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Metabolic renal disease true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Hereditary metabolic disease false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Congenital neurological disorder (disorder) false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Congenital nephropathy (disorder) false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Congenital hearing loss (disorder) false Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Disorder of sensory function (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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