[Use of an information-search diagnostic system for recognizing acute hereditary metabolic diseases with early lethal outcomes].
An information retrieval diagnostic system for hereditary metabolic diseases that are characterized by acute progression and early fatal outcome was developed. The system includes four databases: a list of nosological forms (n = 152), a list of clinical symptoms and characteristics (n = 1094), clinical portraits of every disease, and a list of biochemical characteristics (n = 1072). The system describes each disease as follows: clinical phenotype, etiology, genetics, pathogenesis, biochemical phenotype, paraclinical investigations, differential diagnosis, treatment, and prevention.
Krasnopol'skaia
K D
KD
Sakhibzadaeva
K K
KK
Goncharova
I A
IA
Chebotarev
A N
AN
D000208:Acute Disease; D003936:Diagnosis, Computer-Assisted; D003937:Diagnosis, Differential; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000503:physiopathology; D010641:Phenotype
Ispol'zovanie informatsionno-poiskovoĭ diagnosticheskoĭ sistemy dlia raspoznavaniia ostrotekushchikh nasledstvennykh bolezneĭ obmena s rannim letal'nym iskhodom.