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720519003: Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)


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
5402389013 A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402390016 A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. 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 6
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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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