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| Descritor em português: | Síndrome LEOPARD | ||||||
| Descritor em inglês: | LEOPARD Syndrome | ||||||
| Descritor em espanhol: |
Síndrome LEOPARD
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| Descritor em francês: | Syndrome LEOPARD | ||||||
| Termo(s) alternativo(s): |
Cardio Cutaneous Syndrome Cardio-Cutaneous Syndrome Cardio-Cutaneous Syndromes Cardiomyopathic Lentiginoses Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic, Lentiginosis Cardiomyopathics, Lentiginosis LEOPARD Syndrome, 1 LEOPARD Syndromes Lentigines Syndrome, Multiple Lentigines Syndromes, Multiple Lentiginoses, Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis Cardiomyopathics Lentiginosis, Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic Leopard Syndrome 1 Multiple Lentigines Syndrome Multiple Lentigines Syndromes Noonan Syndrome with Multiple Lentigines Progressive Cardiomyopathic Lentiginoses Progressive Cardiomyopathic Lentiginosis Syndrome, Cardio-Cutaneous Syndrome, LEOPARD Syndrome, Multiple Lentigines Syndromes, Cardio-Cutaneous Syndromes, LEOPARD Syndromes, Multiple Lentigines |
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| Código(s) hierárquico(s): |
C05.660.207.525 C14.240.400.695 C14.280.400.695 C14.280.484.716.525 C16.131.077.525 C16.131.240.400.685 C16.131.621.207.525 C17.800.621.430.530.550.525 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D044542 | ||||||
| Nota de escopo: | An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. |
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| 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 |
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| Indexação Anterior: |
Lentigo (1970-2003) Syndrome (1971-2003) |
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| Nota MeSH pública: | 2004; see NEUROFIBROMATOSIS 1 2002 -2003 |
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| Nota histórica: | 2004; use NEUROFIBROMATOSIS 1 2002 -2003 |
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| Veja também os descritores: |
Neurofibromatosis 1
MeSH Noonan Syndrome MeSH | ||||||
| Identificador DeCS: | 38037 | ||||||
| ID do descritor: | D044542 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/2004 | ||||||
| Data de entrada: | 09/07/2003 | ||||||
| Data de revisão: | 05/07/2019 |
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LEOPARD Syndrome
- Conceito preferido
LEOPARD Syndrome, 1
- Mais específico
| Identificador do conceito |
M0374986 |
| Nota de escopo | An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. |
| Termo preferido | LEOPARD Syndrome |
| Termo(s) alternativo(s) |
Cardio Cutaneous Syndrome Cardio-Cutaneous Syndrome Cardio-Cutaneous Syndromes Cardiomyopathic Lentiginoses Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic, Lentiginosis Cardiomyopathics, Lentiginosis LEOPARD Syndromes Lentigines Syndrome, Multiple Lentigines Syndromes, Multiple Lentiginoses, Cardiomyopathic Lentiginoses, Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis Cardiomyopathics Lentiginosis, Cardiomyopathic Lentiginosis, Progressive Cardiomyopathic Multiple Lentigines Syndrome Multiple Lentigines Syndromes Noonan Syndrome with Multiple Lentigines Progressive Cardiomyopathic Lentiginoses Progressive Cardiomyopathic Lentiginosis Syndrome, Cardio-Cutaneous Syndrome, LEOPARD Syndrome, Multiple Lentigines Syndromes, Cardio-Cutaneous Syndromes, LEOPARD Syndromes, Multiple Lentigines |
| Identificador do conceito |
M000648334 |
| Termo preferido | LEOPARD Syndrome, 1 |
| Termo(s) alternativo(s) |
Leopard Syndrome 1 |
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