190681003: Cystinosis (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Storage disease\Cystinosis

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Cystinosis
\trouble métabolique\trouble métabolique du transport\Amino acid transport disorder\Cystinosis
\trouble métabolique\Inborn error of metabolism\Storage disease\Cystinosis

\Congenital disease\Inborn error of metabolism\Storage disease\Cystinosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1222227015 Lignac-Fanconi syndrome en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
293063018 Cystinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293064012 Cystine disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293065013 Cystine storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293066014 Cystine diathesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
523891000241116 cystinose (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
574292018 Cystinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
872741000172116 cystinose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
932911000172110 déficit en transporteur de la cystine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cystinosis	est un(e) (attribut)	Storage disease	true	Inferred relationship	Some
Cystinosis	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cystinosis	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Cystinosis	est un(e) (attribut)	maladie métabolique du rein	false	Inferred relationship	Some
Cystinosis	est un(e) (attribut)	Amino acid transport disorder	true	Inferred relationship	Some
Cystinosis	est un(e) (attribut)	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Cystinosis	est un(e) (attribut)	Congenital anomaly of trunk	false	Inferred relationship	Some
Cystinosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Cystinosis	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Renal tubulo-interstitial disorder due to cystinosis (disorder)	Due to	True	Cystinosis	Inferred relationship	Some	3
Juvenile nephropathic cystinosis	est un(e) (attribut)	True	Cystinosis	Inferred relationship	Some
Benign adult cystinosis	est un(e) (attribut)	True	Cystinosis	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	True	Cystinosis	Inferred relationship	Some
Hypothyroidism due to cystinosis	Due to	True	Cystinosis	Inferred relationship	Some	2
[EDTA] Cystinosis associated with renal failure	est un(e) (attribut)	False	Cystinosis	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)