236466005: Congenital Fanconi syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis\Congenital Fanconi syndrome

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

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

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

354463014 De Toni-Fanconi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

354464015 Primary Fanconi syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

354465019 Congenital Fanconi syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

625063019 Congenital Fanconi syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	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	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Some	2
Congenital Fanconi syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Congenital Fanconi syndrome	Finding site	Renal tubule structure (body structure)	true	Inferred relationship	Some	2
Congenital Fanconi syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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