Visão selecionada em Inglês
| Descritor em português: | Acondroplasia | ||||||
| Descritor em inglês: | Achondroplasia | ||||||
| Descritor em espanhol: |
Acondroplasia
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| Descritor em francês: | Achondroplasie | ||||||
| Termo(s) alternativo(s): |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Achondroplasias Dysplasia, SADDAN Dysplasias, SADDAN SADDAN SADDAN Dysplasia SADDAN Dysplasias SADDANs Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Skeleton Skin Brain Syndrome Skeleton-Skin-Brain Syndrome Skeleton-Skin-Brain Syndromes Syndrome, Skeleton-Skin-Brain Syndromes, Skeleton-Skin-Brain |
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| Código(s) hierárquico(s): |
C05.116.099.343.110 C05.116.099.708.017 C16.320.240.500 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D000130 | ||||||
| Nota de escopo: | 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) |
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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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| Veja também os descritores: |
Receptor, Fibroblast Growth Factor, Type 3
MeSH | ||||||
| Identificador DeCS: | 139 | ||||||
| ID do descritor: | D000130 | ||||||
| Classificação da NLM: | WE 250 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/1966 | ||||||
| Data de entrada: | 01/01/1999 | ||||||
| Data de revisão: | 08/07/2013 |
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Achondroplasia
- Conceito preferido
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
- Relacionado, mas não mais amplo ou mais específico
| Identificador do conceito |
M0000205 |
| Nota de escopo | 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) |
| Termo preferido | Achondroplasia |
| Termo(s) alternativo(s) |
Achondroplasias |
| Identificador do conceito |
M0567458 |
| Termo preferido | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
| Termo(s) alternativo(s) |
Dysplasia, SADDAN Dysplasias, SADDAN SADDAN SADDAN Dysplasia SADDAN Dysplasias SADDANs Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Skeleton Skin Brain Syndrome Skeleton-Skin-Brain Syndrome Skeleton-Skin-Brain Syndromes Syndrome, Skeleton-Skin-Brain Syndromes, Skeleton-Skin-Brain |
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