236466005: Congenital Fanconi syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary nephropathy\Infantile nephropathic cystinosis\Congenital Fanconi syndrome

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

\Metabolic renal disease\Infantile nephropathic cystinosis\Congenital Fanconi syndrome

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

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

354463014 De Toni-Fanconi syndrome en Synonym Active Case sensitive SNOMED CT core

354464015 Primary Fanconi syndrome en Synonym Active Initial character case insensitive SNOMED CT core

354465019 Congenital Fanconi syndrome en Synonym Active Initial character case insensitive SNOMED CT core

625063019 Congenital Fanconi syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital Fanconi syndrome	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	2
Congenital Fanconi syndrome	Finding site	Renal tubule structure	true	Inferred relationship	Some	2
Congenital Fanconi syndrome	Associated morphology	Inflammatory morphology	true	Inferred relationship	Some	1
Congenital Fanconi syndrome	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Congenital Fanconi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital Fanconi syndrome	Associated morphology	Inflammation	false	Inferred relationship	Some	1
Congenital Fanconi syndrome	Finding site	Structure of interstitial tissue of kidney	true	Inferred relationship	Some	1
Congenital Fanconi syndrome	Is a	Infantile nephropathic cystinosis	true	Inferred relationship	Some
Congenital Fanconi syndrome	Finding site	Structure of interstitial tissue of kidney	false	Inferred relationship	Some	1
Congenital Fanconi syndrome	Associated morphology	Inflammation	false	Inferred relationship	Some	2
Congenital Fanconi syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital Fanconi syndrome	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
354463014	De Toni-Fanconi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
354464015	Primary Fanconi syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
354465019	Congenital Fanconi syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
625063019	Congenital Fanconi syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core