190681003: Cystinosis (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Cystinosis

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Cystinosis
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Cystinosis
\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Cystinosis

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

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

Descriptions:

Id Description Lang Type Status Case? Module

293063018 Cystinosis en Synonym Active Entire term case insensitive SNOMED CT core module
293064012 Cystine disease en Synonym Active Entire term case insensitive SNOMED CT core module
293065013 Cystine storage disease en Synonym Active Entire term case insensitive SNOMED CT core module
293066014 Cystine diathesis en Synonym Active Entire term case insensitive SNOMED CT core module
574292018 Cystinosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1222227015 Lignac-Fanconi syndrome en Synonym Inactive Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cystinosis	Is a	Metabolic renal disease	false	Inferred relationship	Existential restriction modifier
Cystinosis	Is a	Amino acid transport disorder	true	Inferred relationship	Existential restriction modifier
Cystinosis	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Existential restriction modifier
Cystinosis	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier
Cystinosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cystinosis	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier
Cystinosis	Is a	Storage disease	true	Inferred relationship	Existential restriction modifier
Cystinosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cystinosis	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Juvenile nephropathic cystinosis	Is a	True	Cystinosis	Inferred relationship	Existential restriction modifier
Benign adult cystinosis	Is a	True	Cystinosis	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Is a	True	Cystinosis	Inferred relationship	Existential restriction modifier
[EDTA] Cystinosis associated with renal failure	Is a	False	Cystinosis	Inferred relationship	Existential restriction modifier
Hypothyroidism due to cystinosis	Due to	True	Cystinosis	Inferred relationship	Existential restriction modifier	2
Renal tubulo-interstitial disorder due to cystinosis	Due to	True	Cystinosis	Inferred relationship	Existential restriction modifier	3
Adult cystinosis	Is a	True	Cystinosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets