FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

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 Reference Sets
3321113016 Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321114010 Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321115011 Feigenbaum Bergeron Richardson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation 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 GB English: Preferred (foundation metadata concept)
2171661000172113 syndrome de Feigenbaum-Bergeron-Richardson fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2171671000172116 "syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2171631000172119 Feigenbaum-Bergeron-Richardson-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2171641000172114 "syndroom van atherosclerose, doofheid, diabetes, epilepsie en nefropathie" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2171651000172111 syndroom van Feigenbaum-Bergeron-Richardson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

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 true 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) true Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Associated morphology Atherosclerosis true Inferred relationship Some 2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Finding site Arterial structure true 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 true Inferred relationship Some 4
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a Congenital hearing disorder true 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 true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start