62332007: Infantile nephropathic cystinosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Infantile nephropathic cystinosis

\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis

\Metabolic renal disease\Infantile nephropathic cystinosis

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Infantile nephropathic cystinosis
\Finding of trunk structure\Disorder of trunk\Disorder of soft tissue of trunk\Tubulointerstitial nephritis\Infantile nephropathic cystinosis

\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of trunk\Tubulointerstitial nephritis\Infantile nephropathic cystinosis

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Infantile nephropathic cystinosis
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Infantile nephropathic cystinosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis\Infantile nephropathic cystinosis
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Infantile nephropathic cystinosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Infantile nephropathic cystinosis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Infantile nephropathic cystinosis
\Disease\Disorder of trunk\Disorder of soft tissue of trunk\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of connective tissue\Tubulointerstitial nephritis\Infantile nephropathic cystinosis
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Infantile nephropathic cystinosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis
\Disease\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\Infantile nephropathic cystinosis
\Disease\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Cystinosis\Infantile nephropathic cystinosis
\Disease\Metabolic disease\Metabolic renal disease\Infantile nephropathic cystinosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis
\Disease\Disorder of soft tissue\Disorder of soft tissue of trunk\Tubulointerstitial nephritis\Infantile nephropathic 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

103605014 Infantile nephropathic cystinosis en Synonym Active Entire term case insensitive SNOMED CT core module

103606010 Nephropathic cystinosis en Synonym Active Entire term case insensitive SNOMED CT core module

499251010 Lignac-Fanconi syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

801493019 Infantile nephropathic cystinosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile nephropathic cystinosis	Is a	Interstitial nephritis	false	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Is a	Cystinosis	true	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Is a	Cystinosis	false	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Associated morphology	Inflammation	false	Inferred relationship	Existential restriction modifier	2
Infantile nephropathic cystinosis	Finding site	Structure of interstitial tissue of kidney	false	Inferred relationship	Existential restriction modifier	1
Infantile nephropathic cystinosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Infantile nephropathic cystinosis	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Associated morphology	Inflammation	false	Inferred relationship	Existential restriction modifier	1
Infantile nephropathic cystinosis	Finding site	Structure of interstitial tissue of kidney	true	Inferred relationship	Existential restriction modifier	1
Infantile nephropathic cystinosis	Is a	Hereditary nephropathy	true	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Existential restriction modifier	2
Infantile nephropathic cystinosis	Finding site	Renal tubule structure	true	Inferred relationship	Existential restriction modifier	2
Infantile nephropathic cystinosis	Associated morphology	Inflammatory morphology	true	Inferred relationship	Existential restriction modifier	2
Infantile nephropathic cystinosis	Associated morphology	Inflammatory morphology	true	Inferred relationship	Existential restriction modifier	1
Infantile nephropathic cystinosis	Is a	Tubulointerstitial nephritis	true	Inferred relationship	Existential restriction modifier
Infantile nephropathic cystinosis	Is a	Metabolic renal disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital Fanconi syndrome	Is a	True	Infantile nephropathic cystinosis	Inferred relationship	Existential restriction modifier
Acquired Fanconi syndrome	Is a	False	Infantile nephropathic cystinosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets