C0001080 - An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (MeSH) 7/10
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CUI    C0001080
CzechMedical Subject Headings Czech D000130 L6750966preferred S7867616 Y achondroplazie
CzechMedDRA Czech 10000453 L8028692no S10071243 Y Achondroplastický trpaslík
CzechMedDRA Czech 10000452 L8036244no S10071244 Y Achondroplazie
DutchMedical Subject Headings Dutch D000130 L2053683preferred S2391905 Y Chondroplasie, a-
DutchMedical Subject Headings Dutch D000130 L2048472no S2386694 Y Achondroplasia
Dutch(ICD10DUT) ICD10, Dutch Translation Q77.4 L2048473no S2386695 N Achondroplasie
DutchMedical Subject Headings Dutch D000130 L2048473no S2386695 Y Achondroplasie
DutchICPC2-ICD10ENG Thesaurus Dutch MTHU002890 L3639048no S4322283 Y achondroplastisch; dwerggroei
DutchICPC2-ICD10ENG Thesaurus Dutch MTHU016337 L3650795no S4334030 Y chondrodysplasie; foetalis
DutchICPC2-ICD10ENG Thesaurus Dutch MTHU024270 L3657709no S4340944 Y dwerggroei; achondroplastisch
DutchICPC2-ICD10ENG Thesaurus Dutch MTHU029016 L3661863no S4345098 Y foetaal; chondrodysplasie
DutchMedDRA Dutch 10000452 L4958185no S5645690 Y achondroplasie
DutchMedDRA Dutch 10000453 L4958186no S5645691 Y achondroplastische dwerg
EnglishICD10 Q77.4 L0001080preferred S0009674 N Achondroplasia
EnglishICD10AM Q77.4 L0001080preferred S0009674 N Achondroplasia
EnglishLibrary of Congress Subject Headings U000032 L0001080preferred S0009674 N Achondroplasia
EnglishMedical Subject Headings D000130 L0001080preferred S0009674 N Achondroplasia
English(RCD) Read Codes XE1M7 L0001080preferred S0009674 N Achondroplasia
EnglishSNOMED M-22410 L0001080preferred S0009674 N Achondroplasia
EnglishSNOMED Intl D4-00A16 L0001080preferred S0009674 N Achondroplasia
EnglishICD10CM Q77.4 L0001080preferred S0009674 N Achondroplasia
English(NDFRT) National Drug File - Reference Terminology N0000000281 L0001080preferred S0009674 N Achondroplasia
EnglishMEDLINEPLUS 1244 L0001080preferred S0009674 N Achondroplasia
EnglishLibrary of Congress Subject Headings_NW sh85000510 L0001080preferred S0009674 N Achondroplasia
EnglishNCI National Institute of Child Health and Human Development C34345 L0001080preferred S0009674 N Achondroplasia
EnglishMedDRA 10000452 L0001080preferred S0009674 N Achondroplasia
EnglishSNOMEDCT_US 86268005 L0001080preferred S0009674 N Achondroplasia
EnglishNCI Thesaurus C34345 L0001080preferred S0009674 N Achondroplasia
EnglishMTHICD9 756.4 L0001080preferred S0009674 N Achondroplasia
English(MTH) Metathesaurus Names NOCODE L0001080preferred S0009674 Y Achondroplasia
English(CST) COSTART CHONDRODYST L0001080preferred S0352137 N ACHONDROPLASIA
English(DXP) DXplain U000021 L0001080preferred S0352137 N ACHONDROPLASIA
EnglishOMIM 134934 L0001080preferred S0352137 N ACHONDROPLASIA
EnglishOMIM 100800 L0001080preferred S0352137 Y ACHONDROPLASIA
English(CPTSP) CRISP Thesaurus 1849-0171 L0001080preferred S0414257 N achondroplasia
EnglishCHV 0000000628 L0001080preferred S0414257 N achondroplasia
EnglishICPC2ICD10ENG MTHU002889 L0001080preferred S0414257 N achondroplasia
EnglishMEDCIN 32479 L0001080preferred S0414257 Y achondroplasia
EnglishMedical Subject Headings D000130 L0001080preferred S0009675 Y Achondroplasias
EnglishSNOMED M-22410 L0008448no S0004757 N Chondrodystrophia fetalis
EnglishSNOMED Intl D4-00A16 L0008448no S0004757 N Chondrodystrophia fetalis
EnglishMTHICD9 756.4 L0008448no S0004757 N Chondrodystrophia fetalis
EnglishSNOMEDCT_US 86268005 L0008448no S0004757 Y Chondrodystrophia fetalis
English(DXP) DXplain NOCODE L0008448no S0360937 Y CHONDRODYSTROPHIA FETALIS
EnglishSNOMED M-22410 L0009722no S0004758 N Congenital osteosclerosis
EnglishSNOMEDCT_US 86268005 L0009722no S0004758 Y Congenital osteosclerosis
English(RCD) Read Codes XE1M7 L0277295no S0584108 N Achondroplastic dwarfism
EnglishSNOMEDCT_US 86268005 L0277295no S0584108 Y Achondroplastic dwarfism
English(DXP) DXplain NOCODE L0277295no S0366304 Y DWARFISM, ACHONDROPLASTIC
English(CCPSS) Clinical Problem Statements 0062996 L0277295no S1648115 Y DWARFISM ACHONDROPLASTIC
EnglishICPC2ICD10ENG MTHU024270 L0277295no S4076324 Y dwarfism; achondroplastic
EnglishCHV 0000000628 L0277295no S11844556 Y achondroplastic dwarfism
EnglishICPC2ICD10ENG MTHU002890 L0277295no S4100187 Y achondroplastic; dwarfism
English(RCD) Read Codes XE1M7 L0366561no S0468355 N Achondroplastic dwarf
EnglishSNOMED Intl D4-00A16 L0366561no S0468355 N Achondroplastic dwarf
EnglishMedDRA 10000453 L0366561no S0468355 N Achondroplastic dwarf
EnglishSNOMEDCT_US 86268005 L0366561no S0468355 Y Achondroplastic dwarf
EnglishSNOMED M-70140 L0366561no S0482653 Y Dwarf, achondroplastic
EnglishICPC2P L82001 L0366561no S1911279 Y Achondroplastic Dwarf
EnglishCHV 0000000628 L0366561no S6657784 N achondroplastic dwarf
EnglishICPC2P L82001 L0366561no S6657784 Y achondroplastic dwarf
English(RCD) Read Codes X76BI L0675481no S0797901 Y Achondroplastic physique
EnglishSNOMED Intl D4-00A16 L0782385no S0837300 Y Chondrodystrophia foetalis
EnglishSNOMED D-5202 L1002076no S1202526 Y Achondroplasia syndrome
EnglishSNOMED D-5202 L1012584no S1217720 Y Chondrodystrophy syndrome
EnglishICD10CM Q77.4 L1120770no S3455019 N Osteosclerosis congenita
EnglishSNOMEDCT_US 86268005 L1120770no S3455019 Y Osteosclerosis congenita
English(CPTSP) CRISP Thesaurus 2715-2940 L1120770no S1345364 Y osteosclerosis congenita
EnglishOMIM 100800 L1470415no S1757247 Y ACH
EnglishMTHICD9 756.4 L1707816no S1927074 Y Chondrodystrophia
EnglishCHV 0000000628 L1707816no S11867410 Y chondrodystrophia
EnglishSNOMEDCT_US 86268005 L2791444no S3297076 Y Achondroplasia (disorder)
EnglishICPC2ICD10ENG MTHU029016 L3527549no S4081470 Y fetal; chondrodysplasia
EnglishICPC2ICD10ENG MTHU016337 L3527550no S4063962 Y chondrodysplasia; fetalis
EnglishMEDCIN 32479 L7252238no S8546290 Y achondroplasia (diagnosis)
English(NDFRT) National Drug File - Reference Terminology N0000000281 L7660943no S8853233 Y Achondroplasia [Disease/Finding]
FinnishMedical Subject Headings Finnish D000130 L5673527preferred S6506564 Y Akondroplasia
FrenchMedDRA French 10000452 L3245688preferred S3772967 N Achondroplasie
FrenchMedical Subject Headings French D000130 L3245688preferred S3772967 Y Achondroplasie
FrenchMedical Subject Headings French D000130 L10943817no S13630908 Y Maladie de Parrot
FrenchMedical Subject Headings French D000130 L10944219no S13629711 Y Chondrodystrophie foetale
FrenchMedDRA French 10000453 L10944401no S13631214 N Nanisme achondroplasique
FrenchMedical Subject Headings French D000130 L10944401no S13631214 Y Nanisme achondroplasique
German(DMDICD10) ICD-10 German Q77.4 L1229461preferred S1471407 N Achondroplasie
GermanMedDRA German 10000452 L1229461preferred S1471407 N Achondroplasie
GermanMedical Subject Headings German D000130 L1229461preferred S1471407 Y Achondroplasie
GermanMedDRA German 10000453 L5957879no S6840309 Y achondroplastischer Zwerg
HungarianMedDRA Hungarian 10000452 L10016315preferred S12510981 Y Achondroplasia
HungarianMedDRA Hungarian 10000453 L10025028no S12510982 Y Achondroplasiás törpe
ItalianMedDRA Italian 10000452 L1229510preferred S1471456 N Acondroplasia
ItalianMedical Subject Headings Italian D000130 L1229510preferred S1471456 Y Acondroplasia
ItalianMedical Subject Headings Italian D000130 L11827596no S14699533 Y Malattia di Parrot
ItalianMedDRA Italian 10000453 L6007785no S6890214 Y Nanismo acondroplasico
JapaneseMedical Subject Headings Japanese D000130 L3487910preferred S4015404 Y 軟骨形成不全症
JapaneseMedical Subject Headings Japanese D000130 L3483169no S4010663 Y 胎児くる病
JapaneseMedical Subject Headings Japanese D000130 L3483198no S4010692 Y 胎児性軟骨異発育症
JapaneseMedical Subject Headings Japanese D000130 L3483199no S4010693 Y 胎児性軟骨発育不全
JapaneseMedical Subject Headings Japanese D000130 L3483200no S4010694 Y 胎児性軟骨発育不全症
JapaneseMedical Subject Headings Japanese D000130 L3483236no S4010730 Y 胎児軟骨不全症
JapaneseMedical Subject Headings Japanese D000130 L3487908no S4015402 Y 軟骨形成不全
JapaneseMedical Subject Headings Japanese D000130 L3487909no S4015403 Y 軟骨形成不全性小人症
JapaneseMedDRA Japanese 10000452 L3487915no S4015409 N 軟骨無形成症
JapaneseMedical Subject Headings Japanese D000130 L3487915no S4015409 Y 軟骨無形成症
JapaneseMedical Subject Headings Japanese D000130 L3487916no S4015410 Y 軟骨異形成症
JapaneseMedical Subject Headings Japanese D000130 L3487918no S4015412 Y 軟骨異栄養症
JapaneseMedical Subject Headings Japanese D000130 L3487921no S4015415 Y 軟骨発育不全
JapaneseMedical Subject Headings Japanese D000130 L3487922no S4015416 Y 軟骨発育不全症
JapaneseMedical Subject Headings Japanese D000130 L5438937no S6223993 Y くる病-胎児
JapaneseMedical Subject Headings Japanese D000130 L5460101no S6245157 Y 胎児性軟骨異栄養症
JapaneseMedical Subject Headings Japanese D000130 L5462815no S6247872 Y 軟骨異形成
JapaneseMedDRA Japanese 10000452 L6282197no S7219079 Y ナンコツムケイセイショウ
JapaneseMedDRA Japanese 10000453 L6918271no S8053625 Y ナンコツケイセイフゼンセイテイシンチョウショウ
JapaneseMedDRA Japanese 10000453 L6918486no S8053149 Y 軟骨形成不全性低身長症
KoreanKCD5 Q77.4 L8506241preferred S10600710 Y 연골무형성증
NorwegianMSHNOR D000130 L10405521preferred S12977295 Y Akondroplasi
PolishMedical Subject Headings Polish D000130 L9676054preferred S12134494 Y Achondroplazja
PortugueseMedDRA Portuguese 10000452 L3291264preferred S3819199 N Acondroplasia
PortugueseMedical Subject Headings Portuguese D000130 L3291264preferred S3819199 Y Acondroplasia
PortugueseMedDRA Portuguese 10000453 L4899811no S5587315 Y Nanismo acondroplásico
RussianMedical Subject Headings Russian D000130 L3339942preferred S3867423 Y АХОНДРОПЛАЗИЯ
RussianMedical Subject Headings Russian D000130 L0889561no S1093378 Y AKHONDROPLAZIIA
RussianMedical Subject Headings Russian D000130 L1509086no S1804995 Y APLAZIIA DIAFIZARNAIA
RussianMedical Subject Headings Russian D000130 L1526244no S1822153 Y KHONDRODISTROFIIA GIPOPLASTICHESKAIA
RussianMedical Subject Headings Russian D000130 L1526246no S1822155 Y KHONDRODISTROFIIA VROZHDENNAIA
RussianMedical Subject Headings Russian D000130 L1526247no S1822156 Y KHONDRODISTROFIIA
RussianMedical Subject Headings Russian D000130 L1535650no S1831559 Y PARRO-MARI BOLEZN'
RussianMedical Subject Headings Russian D000130 L3339217no S3866698 Y АПЛАЗИЯ ДИАФИЗАРНАЯ
RussianMedical Subject Headings Russian D000130 L3362520no S3889994 Y ПАРРО-МАРИ БОЛЕЗНЬ
RussianMedical Subject Headings Russian D000130 L3375619no S3903112 Y ХОНДРОДИСТРОФИЯ
RussianMedical Subject Headings Russian D000130 L3375620no S3903113 Y ХОНДРОДИСТРОФИЯ ВРОЖДЕННАЯ
RussianMedical Subject Headings Russian D000130 L3375621no S3903114 Y ХОНДРОДИСТРОФИЯ ГИПОПЛАСТИЧЕСКАЯ
Serbo-CroatianMedical Subject Headings Croatian D000130 L9134131preferred S11382911 Y AHONDROPLAZIJA
SpanishSNOMED Clinical Terms, Spanish 86268005 L3820337preferred S4503811 Y acondroplasia
SpanishMedDRA Spanish 10000452 L2689742no S3163801 N Acondroplasia
SpanishMedical Subject Headings Spanish D000130 L2689742no S3163801 Y Acondroplasia
SpanishSNOMED Clinical Terms, Spanish 86268005 L3820338no S4503808 Y acondroplasia (trastorno)
SpanishSNOMED Clinical Terms, Spanish 86268005 L4016365no S4699834 Y condrodistrofia fetal
SpanishSNOMED Clinical Terms, Spanish 86268005 L4120368no S4803838 Y enano acondroplásico
SpanishMedDRA Spanish 10000453 L4927573no S5615078 Y Enanismo acondroplásico
SwedishMedical Subject Headings Swedish D000130 L3419474preferred S3947000 Y Akondroplasi
Medical Subject Headings An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
(CPTSP) CRISP Thesaurus autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation.
NCI Thesaurus An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (MeSH)
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