Preeclampsia/eclampsia 1

Preferred Label : Preeclampsia/eclampsia 1;

Symbol : PEE1;

CISMeF acronym : HELLP; PEE; PEE1; PREG1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Toxemia of pregnancy; PREG1; PEE;

Included titles and symbols : Hypertension, pregnancy-induced; Hemolysis, elevated liver enzymes, and low platelet count; HELLP;

Description : Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011). Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platlets (HELLP syndrome) (Brown et al., 2000). - Genetic Heterogeneity of Preeclampsia/Eclampsia Susceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (609402) on chromosome 2p25, and PEE3 (609403) on chromosome 9p13. PEE4 (609404) is caused by mutation in the STOX1 gene (609397) on chromosome 10q22. PEE5 (614595) is caused by mutation in the;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Proteinuria; Elevated liver enzymes;

Prefixed ID : %189800;

Details

Origin ID

189800;

UMLS CUI

C5574918;

Automatic exact mappings (from CISMeF team)
- HELLP syndrome [MeSH Descriptor]
- preeclampsia/eclampsia 1 [HGNC gene]
- problems and exercises [CISMeF resources Type]
Currated CISMeF NLP mapping
- Gestational Hypertension [NCIt concept]
- Pre-eclampsia [ICD-11 Category]
- Pre-eclampsia (disorder) [SNOMED CT concept]
- Preeclampsia [ORDO Disease]
- Pregnancy toxemia [PASCAL descriptor]
- Pregnancy-induced hypertension (disorder) [SNOMED CT concept]
- Toxemia of Pregnancy [NCIt concept]
- Toxemia of pregnancy [HPO term]
- Toxemia of pregnancy [MedDRA LLT]
- Toxemia of pregnancy (disorder) [Inactive SNOMED CT concept]
- hypertension, Pregnancy-Induced [MeSH concept]
- hypertension, pregnancy-induced [MeSH Descriptor]
- pre-eclampsia [DO Concept]
- pre-eclampsia [MeSH Descriptor]
- preeclampsia [Disease (Nov.)]
DO Cross reference
- pre-eclampsia [DO Concept]
False automatic mappings
- urine and urination [MedlinePlus Topic]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Eclampsia [HPO term]
- Edema [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Hypertension [HPO term]
- Intrauterine growth retardation [HPO term]
- Maternal hypertension [HPO term]
- Preeclampsia [HPO term]
- Proteinuria [HPO term]
- Seizure [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Preeclampsia [ORDO Disease]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- PRE-ECLAMPSIA [WHO-ART Preferred Term]
- Pre-Eclampsia [MeSH concept]
- Pre-eclampsia [MedDRA Preferred Term]
- Pre-eclampsia [ICD-10 category]
- Pre-eclampsia (disorder) [SNOMED CT concept]
- Pre-eclampsia toxaemia [MedDRA LLT]
- Pre-eclampsia toxemia [MedDRA LLT]
- Pre-eclamptic toxaemia [MedDRA LLT]
- Preeclampsia [NCIt concept]
- Preeclampsia [HPO term]
- Preeclampsia [ORDO Disease]
- Preeclampsia [PASCAL descriptor]
- Toxemia of pregnancy [HPO term]
- Unspecified pre-eclampsia [ICD-10 Sub-category]
- pre-eclampsia [MeSH Descriptor]
- pre-eclampsia [DO Concept]
- pre-eclampsia, nos [SNOMED Notion]
- toxaemia of pregnancy [ICPC-2 Rubric]
- toxemia of pregnancy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- gestational hypertension [Disease (Nov.)]

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