C0001193 - An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. 3/10
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CUI    C0001193
CzechMedDRA Czech 10002943 L8036601preferred S10074009 N Apertův syndrom
CzechMedDRA Czech 10002943 L8036601preferred S10074009 N Apertův syndrom
CzechMedical Subject Headings Czech D000168 L8036601preferred S10074009 Y Apertův syndrom
CzechMedical Subject Headings Czech D000168 L9613832no S12077604 Y akrocefalosyndaktylie, typ 1
CzechMedical Subject Headings Czech D000168 L9614331no S12078602 Y kraniostenóza s oxycefalií a syndaktylií
DutchMedical Subject Headings Dutch D000168 L2077166preferred S2415388 Y Syndroom van Apert
DutchMedDRA Dutch 10002943 L5005481no S5692985 N syndroom van Apert
DutchMedDRA Dutch 10002943 L5005481no S5692985 Y syndroom van Apert
EnglishSNOMEDCT_US 205258009 L0003527preferred S4044783 N Apert syndrome
English(MTH) Metathesaurus Names NOCODE L0003527preferred S4044783 Y Apert syndrome
EnglishMedical Subject Headings D000168 L0003527preferred S0090193 Y Syndrome, Apert
EnglishNCI Thesaurus C99099 L0003527preferred S0015206 N Apert Syndrome
EnglishMedical Subject Headings D000168 L0003527preferred S0015206 Y Apert Syndrome
EnglishCHV 0000000653 L0003527preferred S11851017 Y apert syndrome
EnglishOMIM 176943 L0003527preferred S7523781 N APERT SYNDROME
EnglishOMIM 101200 L0003527preferred S7523781 Y APERT SYNDROME
EnglishSNOMED D-5182 L0003527preferred S0000563 N Apert's syndrome
EnglishSNOMED Intl D4-00C04 L0003527preferred S0000563 N Apert's syndrome
EnglishMedDRA 10002943 L0003527preferred S0000563 N Apert's syndrome
EnglishMTHICD9 755.55 L0003527preferred S0000563 N Apert's syndrome
EnglishMedDRA 10002943 L0003527preferred S0000563 Y Apert's syndrome
EnglishCHV 0000000653 L0003527preferred S11851018 Y apert's syndrome
EnglishCHV 0000000653 L0001193no S1202986 Y acrocephalosyndactylia
EnglishCHV 0000000653 L0001194no S4101242 Y acrocephalosyndactyly
EnglishSNOMED D-5182 L0001195no S0003821 Y Acrocephalosyndactyly syndrome, type I
EnglishMedical Subject Headings D000168 L0266736no S13482921 Y Acrocephalosyndactyly, Type I
EnglishSNOMEDCT_US 205258009 L0266736no S11060876 Y Acrocephalosyndactyly type I
EnglishOMIM 101200 L0266736no S7483472 Y ACROCEPHALOSYNDACTYLY, TYPE I
EnglishMedical Subject Headings D000168 L0266736no S13482917 Y Acrocephalosyndactylies, Type I
EnglishMedical Subject Headings D000168 L0266736no S13490827 Y Type I Acrocephalosyndactylies
EnglishNCI National Institute of Child Health and Human Development C99099 L0266736no S13879174 Y Acrocephalosyndactyly Type I
EnglishMedical Subject Headings D000168 L0266736no S13031032 N Type I Acrocephalosyndactyly
EnglishNCI National Institute of Child Health and Human Development C99099 L0266736no S13031032 N Type I Acrocephalosyndactyly
EnglishNCI Thesaurus C99099 L0266736no S13031032 Y Type I Acrocephalosyndactyly
EnglishSNOMEDCT_US 205258009 L0677483no S0798305 N Acrocephalosyndactyly (Apert)
EnglishMedical Subject Headings D000168 L0677483no S0798305 Y Acrocephalosyndactyly (Apert)
EnglishICD10CM Q87.0 L0677483no S11611773 Y Acrocephalosyndactyly [Apert]
EnglishICPC2ICD10ENG MTHU007479 L3518398no S4062723 Y Apert
EnglishOMIM 101200 L6047107no S6939108 Y ACS1
EnglishOMIM 101200 L6430873no S7484204 Y ACS I
EnglishSNOMEDCT_US 205258009 L8902400no S11060875 Y Acrocephalosyndactyly type I (disorder)
EnglishMedical Subject Headings D000168 L9483756no S11798110 Y Syndactylic Oxycephaly
EnglishMedical Subject Headings D000168 L9483756no S11798109 Y Syndactylic Oxycephalies
EnglishMedical Subject Headings D000168 L9489045no S11784055 Y Acrocephalosyndactyly, Type 1
EnglishMedical Subject Headings D000168 L9489045no S11784052 Y Acrocephalosyndactylies, Type 1
FrenchMedDRA French 10002943 L5026895preferred S5714400 N Syndrome d'Apert
FrenchMedDRA French 10002943 L5026895preferred S5714400 N Syndrome d'Apert
FrenchMedical Subject Headings French D000168 L5026895preferred S5714400 Y Syndrome d'Apert
FrenchMedical Subject Headings French D000168 L10944101no S13628717 Y Acrocéphalosyndactylie de type 1
FrenchMedical Subject Headings French D000168 L10946263no S13628723 Y Acrocéphalosyndactylie de type I
FrenchMedical Subject Headings French D000168 L5341066no S6103071 Y Acrocéphalosyndactylie d'Apert
FrenchMedical Subject Headings French D000168 L5703482no S6536518 Y ACPS 1
GermanMedical Subject Headings German D000168 L1233457preferred S1475403 Y Apert-Syndrom
GermanMedDRA German 10002943 L5030853no S5718358 N Apert Syndrom
GermanMedDRA German 10002943 L5030853no S5718358 Y Apert Syndrom
HungarianMedDRA Hungarian 10002943 L10059333preferred S12514718 N Apert-syndroma
HungarianMedDRA Hungarian 10002943 L10059333preferred S12514718 Y Apert-syndroma
ItalianMedDRA Italian 10002943 L6018865preferred S6901295 N Sindrome di Apert
ItalianMedDRA Italian 10002943 L6018865preferred S6901295 N Sindrome di Apert
ItalianMedical Subject Headings Italian D000168 L6018865preferred S6901295 Y Sindrome di Apert
ItalianMedical Subject Headings Italian D000168 L11430170no S14201915 Y Acrocefalosindattilia tipo I
JapaneseMedDRA Japanese 10002943 L3442767preferred S3970261 N アペール症候群
JapaneseMedDRA Japanese 10002943 L3442767preferred S3970261 Y アペール症候群
JapaneseMedDRA Japanese 10002943 L6277891no S7185241 N アペールショウコウグン
JapaneseMedDRA Japanese 10002943 L6277891no S7185241 Y アペールショウコウグン
NorwegianMSHNOR D000168 L10982493preferred S13676104 Y Apert-syndrom
NorwegianMSHNOR D000168 L10995506no S13676103 Y Aperts syndrom
PortugueseMedDRA Portuguese 10002943 L3328335preferred S3855750 N Síndrome de Apert
PortugueseMedDRA Portuguese 10002943 L3328335preferred S3855750 N Síndrome de Apert
PortugueseMedical Subject Headings Portuguese D000168 L3328335preferred S3855750 Y Síndrome de Apert
Serbo-CroatianMedical Subject Headings Croatian D000168 L9128977preferred S11383265 Y APERTOV SINDROM
SpanishSNOMED Clinical Terms, Spanish 205258009 L8932923preferred S11123790 Y acrocefalosindactilia tipo I
SpanishMedDRA Spanish 10002943 L3413778no S3940561 N Síndrome de Apert
SpanishMedDRA Spanish 10002943 L3413778no S3940561 N Síndrome de Apert
SpanishMedical Subject Headings Spanish D000168 L3413778no S3940561 Y Síndrome de Apert
SpanishSNOMED Clinical Terms, Spanish 205258009 L8935690no S11123789 Y acrocefalosindactilia tipo I (trastorno)
NCI Thesaurus An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.
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