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Disease diagnosis method and device and terminal equipment

A technology for disease diagnosis and disease, applied in medical automated diagnosis, instrumentation, genomics, etc., can solve problems that consume time and energy of doctors and patients, and achieve the effect of improving the efficiency of diagnosis and saving time

Inactive Publication Date: 2019-03-15
AEGICARE (SHENZHEN) TECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] In the prior art, whole-exon gene sequencing is usually used to sequence multiple biological components or components of the patient, and then analyze and screen the large amount of gene sequencing data obtained to obtain a list of genes or mutations related to the patient's phenotype , this process requires calculation, analysis and screening of a large amount of data, which consumes time and energy of doctors and patients

Method used

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  • Disease diagnosis method and device and terminal equipment
  • Disease diagnosis method and device and terminal equipment
  • Disease diagnosis method and device and terminal equipment

Examples

Experimental program
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Embodiment 1

[0042] Such as figure 1 As shown, this embodiment provides a disease diagnosis method, which can be applied to terminal devices such as mobile phones, PCs, and tablet computers. The disease diagnosis method provided in this embodiment includes:

[0043] S101. Obtain the clinical phenotype of the patient.

[0044] In a specific application, the clinical phenotype of the current patient is obtained for subsequent analysis and judgment of the patient's disease based on the clinical phenotype.

[0045] S102. Match a list of diseases having a phenotype similar to the clinical phenotype in the database.

[0046] In a specific application, a list of diseases with similar phenotypes is found in the database according to the above clinical phenotypes (wherein, the diseases include common diseases and genetic diseases. In this embodiment, the judgment process for genetic diseases is more applicable. ) to perform the first step of screening, narrowing the scope of subsequent judgment ...

Embodiment 2

[0054] Such as figure 2 As shown, this embodiment is a further description of the method steps in the first embodiment. In this embodiment, the step S102 includes:

[0055] S1021. Obtain a user's selection to determine whether the option selected by the user is an exact match or an approximate match.

[0056] In a specific application, the user's choice is obtained (by providing the user with a selection page including exact match, approximate match or other search matching options) to determine whether the option selected by the user is an exact match or an approximate match. It should be noted that the users include all users who use the current terminal equipment, including doctors, nurses, other medical staff, patients or relatives who have a legal relationship with the patients. In this embodiment, it is set that the user using the current terminal device is a doctor.

[0057] S1022. If the option selected by the user is the approximate match, perform word segmentatio...

Embodiment 3

[0071] Such as image 3 As shown, this embodiment is a further description of the method step S1022 in the second embodiment. In this embodiment, step S1024 includes:

[0072] S10241. Calculate the semantic similarity between the clinical phenotype and the phenotype of a disease having a similar phenotype to the clinical phenotype;

[0073] In a specific application, the semantic similarity between all descriptive words in the clinical phenotype and any clinical phenotype descriptive vocabulary of a disease having a similar phenotype to the clinical phenotype is calculated.

[0074] S10242. Rank the diseases having similar phenotypes to the clinical phenotype according to the semantic similarity.

[0075] In a specific application, the diseases are sorted according to the magnitude of the calculated semantic similarity. Among them, diseases with similar phenotypes to the above-mentioned clinical phenotypes may include one or more diseases, so as to further detect diseases w...

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Abstract

The invention is applicable to the technical field of disease diagnosis, and provides a disease diagnosis method and device and terminal equipment. The method comprises the steps of obtaining the clinical phenotype of a patient, and matching a disease list with the phenotype similar to the clinical phenotype in a database; analyzing and sifting disease-causing genes corresponding to all diseases in the disease list, and determining the disease-causing gene and the disease corresponding to the clinical phenotype. According to the method and device, the disease list with the phenotype similar tothe clinical phenotype is quickly obtained for analysis with the clinical phenotype as the core, the efficiency of making a definite diagnosis on the disease of the patient is improved, and the timeof a doctor and the patient is saved.

Description

technical field [0001] The invention belongs to the technical field of disease diagnosis, and in particular relates to a disease diagnosis method, device and terminal equipment. Background technique [0002] Genetic diseases are diverse and complex, and genetic testing technology can assist doctors in diagnosing genetic diseases. [0003] In the prior art, whole-exon gene sequencing is usually used to sequence multiple biological components or components of the patient, and then analyze and screen the large amount of gene sequencing data obtained to obtain a list of genes or mutations related to the patient's phenotype , this process requires calculation, analysis and screening of a large amount of data, which consumes the time and energy of doctors and patients. Contents of the invention [0004] In view of this, the embodiment of the present invention provides a disease diagnosis method, device and terminal equipment to solve the problem of using whole-exon gene sequenc...

Claims

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Application Information

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IPC IPC(8): G16H50/20G16B20/00
CPCG16H50/20
Inventor 郭辰仪侯淼刘永初刘阳李阳
Owner AEGICARE (SHENZHEN) TECH CO LTD
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