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717767009: Alport syndrome autosomal recessive (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
3310202018 Alport syndrome autosomal recessive (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312046012 Alport syndrome autosomal recessive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
941271000172119 syndrome d'Alport autosomique récessif fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423901001000112 Alport-Syndrom, autosomal-rezessives de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alport syndrome autosomal recessive (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Alport syndrome autosomal recessive (disorder) Is a Hereditary nephritis (disorder) false Inferred relationship Some
Alport syndrome autosomal recessive (disorder) Associated morphology inflammation chronique false Inferred relationship Some 1
Alport syndrome autosomal recessive (disorder) Finding site Glomerulus structure true Inferred relationship Some 1
Alport syndrome autosomal recessive (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
Alport syndrome autosomal recessive (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 autosomal recessive (disorder) Interprets Hearing true Inferred relationship Some 2
Alport syndrome autosomal recessive (disorder) Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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