Short-limb skeletal dysplasia with severe combined immunodeficiency (Q97566): Difference between revisions
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Displasia esquelética com encurtamento de membros e imunodeficiência combinada grave é um tipo raro de IDCG caracterizado pelos sinais clássicos de IDCG T-B- (infecções graves recorrentes, diarreia, retardo no crescimento, ausência de linfócitos T e B), associados com anomalias esqueléticas incluindo baixa estatura, arqueamento de ossos longos e anormalidades metafisárias, com gravidade variável. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterised by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/469016488 / rank | |||||||||||||||
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CID11:ID_469016488 | |||||||||||||||
| Property / CURIE: CID11:ID_469016488 / rank | |||||||||||||||
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dki-india-ID_469016488 | |||||||||||||||
| Property / Canary Token: dki-india-ID_469016488 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 13:41, 16 August 2026
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterised by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_469016488 |
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| English | Short-limb skeletal dysplasia with severe combined immunodeficiency |
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterised by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. |
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CID11:ID_469016488
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dki-india-ID_469016488
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Concluído
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15 August 2026
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