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Definition (MSHCZE)
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Syndrom charakterizovaný anosmií a deficitem gonadotropinů s nedostatečným vývojem pohlavních žláz (hypogonadotropní hypogonadismus). Dále může být hluchota, rozštěpové vady, barvoslepost, mentální retardace aj. Dědičnost bývá obvykle autozomálně dominantní. Porušena je tvorba a migrace neuronů tvořících GnRH spolu s agenezí olfaktorického bulbu. (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
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Definition (NCI)
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An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia.
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Definition (CSP)
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anosmia due to failure of the olfactory lobes to develop, with secondary hypogonadism due to gonadotropic hormone deficiency.
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Definition (MSH)
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A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
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| Concepts |
Disease or Syndrome
(T047)
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| MSH |
D017436
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| ICD10 |
E23.0
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| SnomedCT |
190559001, 93559003, 33927004 |
| English |
Syndrome, Kallmann's, Kallmann's Syndrome, Kallmanns Syndrome, Syndrome, Kallmann, Gonadotrophin defic + anosmia, de Morsier's syndrome, Kallmann Syndrome, familial hypogonadism with anosmia, Kallmann Syndrome [Disease/Finding], kallmans syndrome, de morsier syndrome, kallman's syndrome, kallmann syndrome, kallman syndrome, kallmanns syndrome, Anosmic Hypogonadism, Hypogonadism, Anosmic, Hypogonadisms, Anosmic, Dysplasia Olfactogenitalis of De Morsier, Anosmic Hypogonadisms, Olfacto genital dysplasia, de Morsier-Kallman's syndrome, Hypogonadotropic Hypogonadism-Anosmia Syndrome, Anosmic Idiopathic Hypogonadotropic Hypogonadism, Hypogonadotropic Hypogonadism and Anosmia, Kallmann syndrome, Kallmann syndrome (diagnosis), Kallmann's syndrome, Anosmia eunuchoidism, Dysplasia olfactogenitalis of de Morsier, Kallman syndrome, Kallman's syndrome, Olfactogenital dysplasia, Gonadotrophin deficiency with anosmia, Hypogonadism with anosmia, Hypogonadism with anosmia (disorder), kallmann's syndrome |
| Italian |
Displasia olfatto-genitale, Sindrome di de Morsier-Kallman, Sindrome di Kallman, Sindrome di de Morsier, Sindrome di Kallmann |
| Dutch |
syndroom van Kallmann, de Morsier-Kallman-syndroom, de Morsier-syndroom, Kallmann-syndroom, Syndroom, Kallmann- |
| French |
Syndrome de De Morsier-Kallman, Syndrome de De Morsier, Dysplasie olfactogénitale, Dysplasie olfacto-génitale de De Morsier, Dysplasie olfacto-génitale de Kallmann-De Morsier, Dysplasie olfactogénitale de De Morsier, Dysplasie olfactogénitale de Kallmann-De Morsier, Syndrome de Kallmann, Syndrome de De Morsier-Kallmann, Syndrome de Kallman-De Morsier |
| German |
De-Morsier-Kallmann-Syndrom, De-Morsier-Syndrom, Olfaktogenitale Dysplasie, Kallmann-Syndrom |
| Portuguese |
Síndrome de De Morsier-Kallman, Síndrome de Kallman, Síndrome de De Morsier, Displasia olfacto-genital, Síndrome de Kallmann |
| Spanish |
Síndrome de Kallman, Síndrome de Morsier-Kallman, Síndrome de Morsier, anosmia eunicoide, displasia olfatogenital de Morsier, displasia olfatogenital, hipogonadismo con anosmia (trastorno), hipogonadismo con anosmia, síndrome de Kallman, Displasia olfato genital, Síndrome de Kallmann |
| Japanese |
嗅脳性器異形成, ド・モルシア・カルマン症候群, ﾄﾞﾓﾙｼｱｶﾙﾏﾝｼｮｳｺｳｸﾞﾝ, ﾄﾞﾓﾙｼｱｼｮｳｺｳｸﾞﾝ, ド・モルシア症候群, ｷｭｳﾉｳｾｲｷｲｹｲｾｲ, ｶﾙﾏﾝｼｮｳｺｳｸﾞﾝ, Kallmann症候群, カルマン症候群 |
| Swedish |
Kallmanns syndrom
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| Czech |
Kallmannův syndrom, Olfaktogenitální dysplazie, de Morsier-Kallmanův syndrom, de Morsierův syndrom, Kallmanův syndrom, olfaktogenitální syndrom, hypogonadismus s anosmií |
| Finnish |
Kallmannin oireyhtymä
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| Russian |
KALLMENA SINDROM, КАЛЛМЕНА СИНДРОМ |
| Polish |
Zespół węchowo-płciowy, Zespół Kallmanna |
| Hungarian |
Kallman-syndroma, De morsier-kallman-syndroma, Olfactogenitalis dysplasia, Kallmann-syndroma, De morsier-syndroma |
| Norwegian |
Kallmanns syndrom, Hypogonadotropisk eunukoidisme |
