Achondrogenesis type 1B (Q54556): Difference between revisions
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Acondrogenesia tipo 1B, uma forma de acondrogenesia, é uma displasia esquelética letal rara caracterizada por micromelia grave com dedos das mãos e dos pés muito curtos, uma face plana, um pescoço curto, tecido mole espessado ao redor do pescoço, hipoplasia do tórax, abdômen protuberante, um aparência fetal hidrópica e características histológicas distintas da cartilagem. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1740585991 / rank | |||||||||||||||
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CID11:ID_1740585991 | |||||||||||||||
| Property / CURIE: CID11:ID_1740585991 / rank | |||||||||||||||
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dki-india-ID_1740585991 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1740585991 / 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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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 02:10, 14 August 2026
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1740585991 |
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| English | Achondrogenesis type 1B |
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. |
Statements
CID11:ID_1740585991
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dki-india-ID_1740585991
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Concluído
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13 August 2026
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