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717768004: Alport syndrome X-linked (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
3311845012 Alport syndrome X-linked (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312599010 Alport syndrome X-linked en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5996171000241115 syndrome d'Alport lié à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425011001000113 Alport-Syndrom, X-chromosomales de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alport syndrome X-linked (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Alport syndrome X-linked (disorder) Is a Hereditary nephritis (disorder) false Inferred relationship Some
Alport syndrome X-linked (disorder) Associated morphology inflammation chronique false Inferred relationship Some 1
Alport syndrome X-linked (disorder) Finding site Glomerulus structure true Inferred relationship Some 1
Alport syndrome X-linked (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
Alport syndrome X-linked (disorder) Is a A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. true Inferred relationship Some
Alport syndrome X-linked (disorder) Interprets Hearing true Inferred relationship Some 2
Alport syndrome X-linked (disorder) Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Some
Alport syndrome X-linked (disorder) Has interpretation Impaired true Inferred relationship Some 2
Alport syndrome X-linked (disorder) Is a X-linked sensorineural hearing loss true Inferred relationship Some
Alport syndrome X-linked (disorder) Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. Is a True Alport syndrome X-linked (disorder) Inferred relationship Some

This concept is not in any reference sets

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