C0002066 - A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in the blood of homogentisic acid which is excreted in the urine. The presence of homogentisic acid in the urine causes its color to turn black. The excessive amount of homogentisic acid in the blood may cause damage to cartilage and heart valves, and may result in the formation of kidney stones. 9/10
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CUI    C0002066
CzechMedical Subject Headings Czech D000474 L6771389preferred S7868089 Y alkaptonurie
CzechMedDRA Czech 10001689 L8058846no S10072870 N Alkaptonurie
CzechMedDRA Czech 10001689 L8058846no S10072870 Y Alkaptonurie
DutchMedical Subject Headings Dutch D000474 L2049180preferred S2387402 Y Alkaptonurie
DutchICPC2-ICD10ENG Thesaurus Dutch MTHU021621 L3655505no S4338740 Y deficiëntie; homogentisaat 1,2-dioxygenase
DutchICPC2-ICD10ENG Thesaurus Dutch MTHU035387 L3667127no S4350362 Y homogentisaat 1,2-dioxygenase; deficiëntie
DutchMedDRA Dutch 10001689 L4959527no S5647032 N alkaptonurie
DutchMedDRA Dutch 10001689 L4959527no S5647032 Y alkaptonurie
EnglishMedDRA 10001689 L0002066preferred S0012250 N Alkaptonuria
English(RCD) Read Codes XE116 L0002066preferred S0012250 N Alkaptonuria
EnglishSNOMED Intl D6-A2180 L0002066preferred S0012250 N Alkaptonuria
EnglishNCI Thesaurus C84546 L0002066preferred S0012250 N Alkaptonuria
EnglishICD10CM E70.29 L0002066preferred S0012250 N Alkaptonuria
English(NDFRT) National Drug File - Reference Terminology N0000000357 L0002066preferred S0012250 N Alkaptonuria
EnglishMedDRA 10001689 L0002066preferred S0012250 N Alkaptonuria
EnglishSNOMEDCT_US 360381004 L0002066preferred S0012250 N Alkaptonuria
EnglishMTHICD9 270.2 L0002066preferred S0012250 N Alkaptonuria
EnglishMedical Subject Headings D000474 L0002066preferred S0012250 Y Alkaptonuria
English(CST) COSTART URIN ABNORM L0002066preferred S0352553 N ALKAPTONURIA
English(DXP) DXplain U000067 L0002066preferred S0352553 N ALKAPTONURIA
EnglishWHO 1118 L0002066preferred S0352553 N ALKAPTONURIA
EnglishOMIM 607474 L0002066preferred S0352553 N ALKAPTONURIA
EnglishOMIM 203500 L0002066preferred S0352553 Y ALKAPTONURIA
English(AOD) Alcohol and Other Drug Thesaurus 0000005743 L0002066preferred S1426730 N alkaptonuria
EnglishCHV 0000000903 L0002066preferred S1426730 N alkaptonuria
EnglishICPC2ICD10ENG MTHU004967 L0002066preferred S1426730 N alkaptonuria
EnglishMEDCIN 33532 L0002066preferred S1426730 Y alkaptonuria
English(RCD) Read Codes XE116 L0002066preferred S0003665 N Alcaptonuria
EnglishSNOMED D-1748 L0002066preferred S0003665 N Alcaptonuria
English(NDFRT) National Drug File - Reference Terminology N0000000357 L0002066preferred S0003665 N Alcaptonuria
EnglishMedical Subject Headings D000474 L0002066preferred S0003665 Y Alcaptonuria
English(DXP) DXplain NOCODE L0002066preferred S0352508 Y ALCAPTONURIA
EnglishCHV 0000000903 L0002066preferred S11846982 Y alcaptonuria
EnglishSNOMED D-1748 L0019882no S0000426 N Homogentisicaciduria
EnglishSNOMED Intl D6-A2180 L0019882no S0000426 N Homogentisicaciduria
EnglishSNOMEDCT_US 360378009 L0019882no S0000426 Y Homogentisicaciduria
English(DXP) DXplain NOCODE L0019882no S0376599 Y HOMOGENTISICACIDURIA
English(RCD) Read Codes XE116 L0356597no S0489433 N Homogentisate 1,2-dioxygenase deficiency
EnglishSNOMED Intl D6-A2180 L0356597no S0489433 N Homogentisate 1,2-dioxygenase deficiency
EnglishSNOMEDCT_US 360378009 L0356597no S0489433 Y Homogentisate 1,2-dioxygenase deficiency
EnglishICPC2ICD10ENG MTHU021621 L0356597no S4070309 Y deficiency; homogentisate 1,2-dioxygenase
EnglishICPC2ICD10ENG MTHU035387 L0356597no S4088914 Y homogentisate 1,2-dioxygenase; deficiency
EnglishSNOMEDCT_US 360378009 L0356597no S3249859 Y Deficiency of homogentisate 1,2-dioxygenase
English(NDFRT) National Drug File - Reference Terminology N0000000357 L0366700no S13486224 N Homogentisic Acid Oxidase Deficiency
EnglishMedical Subject Headings D000474 L0366700no S13486224 Y Homogentisic Acid Oxidase Deficiency
EnglishSNOMED Intl D6-A2180 L0366700no S0489434 N Homogentisic acid oxidase deficiency
EnglishSNOMEDCT_US 360378009 L0366700no S0489434 Y Homogentisic acid oxidase deficiency
EnglishOMIM 203500 L0366700no S7517543 Y HOMOGENTISIC ACID OXIDASE DEFICIENCY
EnglishMedical Subject Headings D000474 L10845055no S13483030 Y Alcaptonurias
English(NDFRT) National Drug File - Reference Terminology N0000000357 L11267601no S14005904 N Homogentisic Acidura
EnglishMedical Subject Headings D000474 L11267601no S14005904 Y Homogentisic Acidura
EnglishSNOMEDCT_US 360378009 L2723161no S3353469 Y Homogentisate 1,2-dioxygenase deficiency (disorder)
EnglishSNOMEDCT_US 360378009 L2989641no S3249860 Y Deficiency of homogentisate oxygenase
EnglishSNOMEDCT_US 360378009 L2989642no S3249861 Y Deficiency of homogentisicase
EnglishICPC2ICD10ENG MTHU035388 L3507515no S4088915 Y homogentisate l,2-dioxygenase deficiency
EnglishSNOMEDCT_US 360381004 L5153067no S5884009 Y Alkaptonuria (finding)
EnglishOMIM 203500 L6494227no S7499623 Y AKU
EnglishMEDCIN 33532 L7494797no S8684504 Y alkaptonuria (diagnosis)
English(NDFRT) National Drug File - Reference Terminology N0000000357 L7666095no S8859971 Y Alkaptonuria [Disease/Finding]
FinnishMedical Subject Headings Finnish D000474 L5673786preferred S6506823 Y Alkaptonuria
FrenchMedDRA French 10001689 L3246822preferred S3774156 N Alcaptonurie
FrenchMedDRA French 10001689 L3246822preferred S3774156 N Alcaptonurie
FrenchMedical Subject Headings French D000474 L3246822preferred S3774156 Y Alcaptonurie
FrenchWHOART French 1118 L0162484no S0226965 Y ALCAPTONURIE
FrenchMedical Subject Headings French D000474 L10945458no S13630910 Y Maladie de l'urine noire
FrenchMedical Subject Headings French D000474 L5707610no S6540647 Y Déficit en oxydase homogentisique
GermanMedDRA German 10001689 L1230697preferred S1472643 N Alkaptonurie
GermanMedDRA German 10001689 L1230697preferred S1472643 N Alkaptonurie
GermanMedical Subject Headings German D000474 L1230697preferred S1472643 Y Alkaptonurie
GermanWHOART German 1118 L0407247no S0531529 Y ALKAPTONURIE
HungarianMedDRA Hungarian 10001689 L10059085preferred S12512607 N Alkaptonuria
HungarianMedDRA Hungarian 10001689 L10059085preferred S12512607 Y Alkaptonuria
ItalianMedDRA Italian 10001689 L1230610preferred S1472556 N Alcaptonuria
ItalianMedDRA Italian 10001689 L1230610preferred S1472556 N Alcaptonuria
ItalianMedical Subject Headings Italian D000474 L1230610preferred S1472556 Y Alcaptonuria
JapaneseMedDRA Japanese 10001689 L3443146preferred S3970640 N アルカプトン尿症
JapaneseMedDRA Japanese 10001689 L3443146preferred S3970640 N アルカプトン尿症
JapaneseMedical Subject Headings Japanese D000474 L3443146preferred S3970640 Y アルカプトン尿症
JapaneseMedical Subject Headings Japanese D000474 L3443145no S3970639 Y アルカプトン尿
JapaneseMedical Subject Headings Japanese D000474 L3457945no S3985439 Y ホモゲンチジン酸酸化酵素欠損症
JapaneseMedical Subject Headings Japanese D000474 L5445733no S6230789 Y ホモゲンチジン酸尿症
JapaneseMedDRA Japanese 10001689 L6289390no S7185356 N アルカプトンニョウショウ
JapaneseMedDRA Japanese 10001689 L6289390no S7185356 Y アルカプトンニョウショウ
NorwegianMSHNOR D000474 L10988922preferred S13675582 Y Alkaptonuri
PolishMedical Subject Headings Polish D000474 L9702474preferred S12135058 Y Alkaptonuria
PortugueseMedDRA Portuguese 10001689 L3292032preferred S3820018 N Alcaptonúria
PortugueseMedDRA Portuguese 10001689 L3292032preferred S3820018 N Alcaptonúria
PortugueseMedical Subject Headings Portuguese D000474 L3292032preferred S3820018 Y Alcaptonúria
PortugueseWHOART Portuguese 1118 L0320032no S0428337 Y ALCAPTONURIA
RussianMedical Subject Headings Russian D000474 L3337564preferred S3865045 Y АЛКАПТОНУРИЯ
RussianMedical Subject Headings Russian D000474 L0889728no S1093545 Y ALKAPTONURIIA
Serbo-CroatianMedical Subject Headings Croatian D000474 L9129945preferred S11382984 Y ALKAPTONURIJA
SpanishSNOMED Clinical Terms, Spanish 360381004 L3841865preferred S4525337 Y alcaptonuria
SpanishWHOART Spanish 1118 L0337797no S0446102 Y ALCAPTONURIA
SpanishMedDRA Spanish 10001689 L2343316no S2779171 N Alcaptonuria
SpanishMedDRA Spanish 10001689 L2343316no S2779171 N Alcaptonuria
SpanishMedical Subject Headings Spanish D000474 L2343316no S2779171 N Alcaptonuria
SpanishSNOMED Clinical Terms, Spanish 360378009 L4050439no S4733909 Y deficiencia de homogentisato 1,2-dioxigenasa
SpanishSNOMED Clinical Terms, Spanish 360378009 L4050440no S4733908 Y deficiencia de homogentisato 1,2-dioxigenasa (trastorno)
SpanishSNOMED Clinical Terms, Spanish 360378009 L4050442no S4733911 Y deficiencia de homogentisicasa
SpanishSNOMED Clinical Terms, Spanish 360378009 L4303355no S4986826 Y homogentisicoaciduria
SpanishSNOMED Clinical Terms, Spanish 360381004 L5407236no S6190586 Y alcaptonuria (hallazgo)
SwedishMedical Subject Headings Swedish D000474 L3419614preferred S3947175 Y Alkaptonuri
Medical Subject Headings An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
NCI Thesaurus A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in the blood of homogentisic acid which is excreted in the urine. The presence of homogentisic acid in the urine causes its color to turn black. The excessive amount of homogentisic acid in the blood may cause damage to cartilage and heart valves, and may result in the formation of kidney stones.
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