Congenital Fanconi syndrome 236466005

SNOMED CT code

SNOMED code

236466005

name

Congenital Fanconi syndrome

status

active

date introduced

2002-01-31

fully specified name(s)

Congenital Fanconi syndrome (disorder)

synonyms

De Toni-Fanconi syndrome
Primary Fanconi syndrome
Congenital Fanconi syndrome

attributes - group2

Associated morphology

Inflammatory morphology 409774005

Finding site

Renal tubule structure 58471003

attributes - group1

Associated morphology

Inflammatory morphology 409774005

Occurrence

Congenital 255399007

Finding site

Structure of interstitial tissue of kidney 50235001

parents

Congenital connective tissue disorder 363039000
Infantile nephropathic cystinosis 62332007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of connective tissue 105969002
Congenital connective tissue disorder 363039000
Congenital Fanconi syndrome 236466005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Metabolic renal disease 106000008
Infantile nephropathic cystinosis 62332007
Congenital Fanconi syndrome 236466005

ancestors

sorted most to least specific

Congenital connective tissue disorder 363039000
Infantile nephropathic cystinosis 62332007
Metabolic renal disease 106000008
Cystinosis 190681003
Connective tissue hereditary disorder 363045008
Hereditary nephropathy 367591000119105
Tubulointerstitial nephritis 428255004
Disorder of connective tissue 105969002
Amino acid transport disorder 16784003
Hereditary disorder of the urinary system 363338001
Lysosomal storage disease 28821000119102
Autosomal recessive hereditary disorder 85995004
Disorder of soft tissue of trunk 280133005
Nephritis 52845002
Renal tubular disorder 95568003
Metabolic disorder of transport 111394006
Storage disease 34420000
Autosomal hereditary disorder 1899006
Disorder of amino acid and organic acid metabolism 237911005
Hereditary disorder by system 363137000
Inflammation of specific body organs 363169009
Disorder of renal parenchyma 767094002
Enzymopathy 78548001
Disorder of soft tissue 19660004
Inflammatory disorder of genitourinary system 373406006
Kidney disease 90708001
Inborn error of metabolism 86095007
Disorder of amino acid metabolism 44779003
General finding of soft tissue 248402002
Inflammation of specific body systems 363171009
Congenital disease 66091009
Kidney finding 249578005
Hereditary metabolic disease 1821000146108
Disorder of organic acid metabolism 116021002
Inflammation of specific body structures or tissue 363170005
Disorder of kidney and/or ureter 443820000
Disorder of retroperitoneum 734045002
Metabolic disease 75934005
Disorder of the urinary system 128606002
Hereditary disease 32895009
Inflammatory disorder 128139000
Disorder of abdomen 118948005
Abdominal organ finding 249561001
Urinary system finding 106098005
Genetic disease 782964007
Disorder of the genitourinary system 42030000
Finding of abdomen 609624008
Viscus structure finding 406123005
Urogenital finding 118238000
Disorder of body system 362965005
Disorder of abdominopelvic segment of trunk 822988000
Finding of abdominopelvic segment of trunk 822987005
Disorder of trunk 128121009
Disease 64572001
Finding of trunk structure 302292003
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Disorder of connective tissue 105969002

Congenital connective tissue disorder 363039000

Congenital Fanconi syndrome 236466005

SNOMED CT code