Visão selecionada em Inglês
Descritor em português: | Síndrome de Kallmann | ||||
Descritor em inglês: | Kallmann Syndrome | ||||
Descritor em espanhol: |
Síndrome de Kallmann
| ||||
Descritor em francês: | Syndrome de Kallmann | ||||
Termo(s) alternativo(s): |
Anosmic Hypogonadism Anosmic Hypogonadisms Anosmic Idiopathic Hypogonadotropic Hypogonadism Autosomal Dominant Form of Kallmann Syndrome Autosomal Recessive Form of Kallmann Syndrome Dysplasia Olfactogenitalis of De Morsier Hypogonadism, Anosmic Hypogonadisms, Anosmic Hypogonadotropic Hypogonadism and Anosmia Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion) Hypogonadotropic Hypogonadism-Anosmia Syndrome Kallmann Syndrome 1 Kallmann Syndrome 2 Kallmann Syndrome 3 Kallmann Syndrome, Type 1, X-linked Kallmann Syndrome, Type 3, Recessive Kallmann's Syndrome Kallmanns Syndrome Syndrome, Kallmann Syndrome, Kallmann's |
||||
Código(s) hierárquico(s): |
C12.050.351.875.253.096.750 C12.200.706.316.096.750 C12.800.316.096.750 C16.131.939.316.096.750 C16.320.467 C19.391.119.096.750 C19.391.482.600 |
||||
Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D017436 | ||||
Nota de escopo: | 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. |
||||
Qualificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||
Indexação Anterior: |
Hypogonadism (1966-1992) |
||||
Nota MeSH pública: | 93 |
||||
Nota histórica: | 93 |
||||
Veja também os descritores: |
Gonadotropin-Releasing Hormone
MeSH Receptor, Fibroblast Growth Factor, Type 1 MeSH | ||||
Identificador DeCS: | 30678 | ||||
ID do descritor: | D017436 | ||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||
Data de estabelecimento: | 01/01/1993 | ||||
Data de entrada: | 20/05/1992 | ||||
Data de revisão: | 08/07/2013 |
|
Kallmann Syndrome
- Conceito preferido
Kallmann Syndrome 1
- Mais específico
Kallmann Syndrome 3
- Mais específico
Kallmann Syndrome 2
- Mais específico
Identificador do conceito |
M0026453 |
Nota de escopo | 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. |
Termo preferido | Kallmann Syndrome |
Termo(s) alternativo(s) |
Anosmic Hypogonadism Anosmic Hypogonadisms Anosmic Idiopathic Hypogonadotropic Hypogonadism Dysplasia Olfactogenitalis of De Morsier Hypogonadism, Anosmic Hypogonadisms, Anosmic Hypogonadotropic Hypogonadism and Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Kallmann's Syndrome Kallmanns Syndrome Syndrome, Kallmann Syndrome, Kallmann's |
Identificador do conceito |
M0472223 |
Nota de escopo | Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing neurons and olfactory nerves to the HYPOTHALAMUS. |
Termo preferido | Kallmann Syndrome 1 |
Termo(s) alternativo(s) |
Kallmann Syndrome, Type 1, X-linked |
Identificador do conceito |
M0530007 |
Termo preferido | Kallmann Syndrome 3 |
Termo(s) alternativo(s) |
Autosomal Recessive Form of Kallmann Syndrome Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion) Kallmann Syndrome, Type 3, Recessive |
Identificador do conceito |
M0472224 |
Nota de escopo | Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN). |
Termo preferido | Kallmann Syndrome 2 |
Termo(s) alternativo(s) |
Autosomal Dominant Form of Kallmann Syndrome |
Queremos a sua opinião sobre o novo sitio web do DeCS/MeSH
Convidamos-lhe a responder a uma pesquisa que não levará mais que 3 minutos
Ir para pesquisa