The rendering of human phenotype and rare diseases in ICD-11
The rendering of human phenotype and rare diseases in ICD-11
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DOI：
10.1007/s10545-018-0172-5
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发表时间：
2018-05-01
影响因子：
4.2
通讯作者：
Chute, Christopher G.
中科院分区：
文献类型：
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作者：
Chute, Christopher G.
ICD-11（国际疾病分类，第11次修订）是世界卫生组织（WHO）对ICD的下一次重大修订。ICD-11与历史版本有很大的不同，因为它是基于术语和意义的潜在语义网络，称为基础。作为一个相互排斥和详尽的统计分类，ICD-11从网络中创建了衍生线性化，该网络是一个具有剩余类别（如未在其他地方分类）的单层次结构。ICD-11还引入了广泛的术语后协调，这允许对详细的患者描述进行高度表达。表型特征包括在许多子章节或体征和症状章节中。复合表型描述的具体介绍或综合征可以表示，通过后协调。罕见疾病在基金会中有很好的代表性，尽管并非所有疾病都出现在相对较浅的线性化层级中。
ICD-11 (International Classification of Diseases, 11th Revision) is the next major revision of the ICD by the World Health Organization (WHO). ICD-11 differs dramatically from historical versions, as it is based on an underlying semantic network of terms and meaning, called the Foundation. To function as a mutually exclusive and exhaustive statistical classification, ICD-11 creates derivative linearizations from the network that is a monohierarchy with residual categories such as Not Elsewhere Classified. ICD-11 also introduces the widespread post-coordination of terms, which allows for highly expressive representation of detailed patient descriptions. Phenotyping features are included in many subchapters or the signs and symptoms chapter. Composite phenotype descriptions of specific presentations or syndromes can be represented though post-coordination. Rare diseases are well represented in the Foundation, though not all appear in the relatively shallow linearization hierarchies.