Diagnosis Unknown

Common Name(s)

Diagnosis Unknown, No Diagnosis, Not Yet Diagnosed, Undiagnosed Condition

Diagnosis unknown refers to when a person has signs and/or symptoms of a medical or mental health issue, but doctors cannot identify or diagnose the person’s condition or disorder. Without a diagnosis, or the correct diagnosis, it is difficult to get the correct treatment. People may search for years for a diagnosis especially if they have a rare medical or genetic condition. If the condition is rare, sometimes doctors will not know enough about it to diagnose it correctly. Diagnosing can be difficult if there is not a specific test or set of certain symptoms for the condition. Diagnosis can also be hard if the signs and symptoms a person has are general and could be found in number of different conditions. Sometimes a person’s symptoms may not be the typical or usual symptoms for a certain condition but they still have that condition. Sometimes a person may have a condition which has not been identified before. If you are classified as diagnosis unknown by your doctor, it is best to first get a second opinion. Medical advances are happening all the time and with new techniques, such as whole genome sequencing, more people are able to receive a diagnosis. If you or a family member is consistently given an unknown diagnosis, reach out to a support group which specializes in supporting people searching for a diagnosis. Support groups will not only help you in your effort to get a diagnosis but can also be a great emotional support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diagnosis Unknown" for support, advocacy or research.

In Need Of Diagnosis, Inc.

INOD's mission is to provide help and support for individuals distressed with disorders that have eluded medical diagnosis and to identify and encourage the implementation of protocols that will facilitate quicker and more accurate diagnosis. Provide collective identity. Provide education and voice within healthcare industry. Maintain database of signs, symptoms, demographics, historical enviormental impacts, and effective treatments. Provide Physician referrals.

Last Updated: 27 Dec 2014

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Syndromes Without A Name USA

We are an organization that advocates for children and young adults who have syndromes without a name. We offer support, advice and information on the challenges that families face when there is no diagnosis. We also advocate for changes in the medical community that will benefit undiagnosed individuals.

Last Updated: 27 Dec 2014

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Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

Last Updated: 28 Feb 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diagnosis Unknown" for support, advocacy or research.

In Need Of Diagnosis, Inc.

INOD's mission is to provide help and support for individuals distressed with disorders that have eluded medical diagnosis and to identify and encourage the implementation of protocols that will facilitate quicker and more accurate diagnosis. Provide collective identity. Provide education and voice within healthcare industry. Maintain database of signs, symptoms, demographics, historical enviormental impacts, and effective treatments. Provide Physician referrals.

http://www.inod.org

Last Updated: 27 Dec 2014

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Syndromes Without A Name USA

We are an organization that advocates for children and young adults who have syndromes without a name. We offer support, advice and information on the challenges that families face when there is no diagnosis. We also advocate for changes in the medical community that will benefit undiagnosed individuals.

http://www.undiagnosed-usa.org

Last Updated: 27 Dec 2014

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Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

http://www.agmd-gimotility.org

Last Updated: 28 Feb 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Diagnosis Unknown" returned 46 free, full-text research articles on human participants. First 3 results:

[Value of combined measurement of C-reactive protein, erythrocyte sedimentation rate, lactate dehydrogenase and serum ferritin in etiological diagnosis of fever of unknown origin in children].
 

Author(s): Ting Xie, Jia-Hua Pan, Xue Zhang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Sep;17(9):950-5.

 

To study the clinical value of combined measurement of C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), lactate dehydrogenase (LDH), and serum ferritin (SF) in the etiological diagnosis of fever of unknown origin (FUO) in children.

Last Updated: 28 Sep 2015

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PET Index of Bone Glucose Metabolism (PIBGM) Classification of PET/CT Data for Fever of Unknown Origin Diagnosis.
 

Author(s): Jian Yang, Xinxin Liu, Danni Ai, Jingfan Fan, Youjing Zheng, Fang Li, Li Huo, Yongtian Wang

Journal:

 

Fever of unknown origin (FUO) remains a challenge in clinical practice. Fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) is helpful in diagnosing the etiology of FUO. This paper aims to develop a completely automatic classification method ...

Last Updated: 16 Jun 2015

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Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan.
 

Author(s): Madiha Kanwal, Saadia Alyas, Muhammad Afzal, Atika Mansoor, Rashda Abbasi, Flora Tassone, Sajid Malik, Kehkashan Mazhar

Journal:

 

Fragile-X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and affects 0.7-3.0% of intellectually compromised population of unknown etiology worldwide. It is mostly caused by repeat expansion mutations in the FMR1 at chromosome Xq27.3. The present study ...

Last Updated: 16 Apr 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Diagnosis Unknown" returned 7 free, full-text review articles on human participants. First 3 results:

Cancer of unknown primary site: improved patient management with molecular and immunohistochemical diagnosis.
 

Author(s): F Anthony Greco

Journal: Am Soc Clin Oncol Educ Book. 2013 ;():175-81.

 

Cancer of unknown primary site (CUP) is a common heterogeneous clinicopathologic syndrome, but investigations and publications regarding these patients are rare. For the last 20 years, empiric "broad-spectrum" chemotherapy has been the standard therapy for the majority of these patients. ...

Last Updated: 11 Dec 2013

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Cancer of unknown primary: progress in the search for improved and rapid diagnosis leading toward superior patient outcomes.
 

Author(s): F A Greco, K Oien, M Erlander, R Osborne, G Varadhachary, J Bridgewater, D Cohen, H Wasan

Journal: Ann. Oncol.. 2012 Feb;23(2):298-304.

 

This paper explores the enigma of cancer of unknown primary (CUP) in relation to rapidly improving molecular diagnostic approaches. It is based on the first global collaboration meeting on improving research and clinical outcomes in CUP organized by the CUP Foundation. We review the ...

Last Updated: 25 Jan 2012

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Cancers of unknown primary site: ESMO clinical recommendations for diagnosis, treatment and follow-up.
 

Author(s): E Briasoulis, N Pavlidis, E Felip,

Journal: Ann. Oncol.. 2009 May;20 Suppl 4():154-5.

 

Last Updated: 20 May 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Research for the Diagnosis of Tick-borne Diseases in Patients With Unexplained Acute Fever
 

Status: Recruiting

Condition Summary: Fever of Unknown Origin; Tick-borne Diseases

 

Last Updated: 11 Dec 2015

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Last Updated: 22 Aug 2015

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Genotype-guided Dosing of mFOLFIRINOX Chemotherapy in Patients With Previously Untreated Advanced Gastrointestinal Malignancies
 

Status: Recruiting

Condition Summary: Acinar Cell Adenocarcinoma of the Pancreas; Adenocarcinoma of the Gallbladder; Adenocarcinoma of Unknown Primary; Adult Primary Cholangiocellular Carcinoma; Advanced Adult Primary Liver Cancer; Cholangiocarcinoma of the Extrahepatic Bile Duct; Cholangiocarcinoma of the Gallbladder; Diffuse Adenocarcinoma of the Stomach; Duct Cell Adenocarcinoma of the Pancreas; Intestinal Adenocarcinoma of the Stomach; Localized Unresectable Adult Primary Liver Cancer; Metastatic Carcinoma of Unknown Primary; Metastatic Extrahepatic Bile Duct Cancer; Mixed Adenocarcinoma of the Stomach; Mucinous Adenocarcinoma of the Colon; Mucinous Adenocarcinoma of the Rectum; Newly Diagnosed Carcinoma of Unknown Primary; Signet Ring Adenocarcinoma of the Colon; Signet Ring Adenocarcinoma of the Rectum; Stage III Pancreatic Cancer; Stage IIIA Colon Cancer; Stage IIIA Gallbladder Cancer; Stage IIIA Gastric Cancer; Stage IIIA Rectal Cancer; Stage IIIB Colon Cancer; Stage IIIB Gallbladder Cancer; Stage IIIB Gastric Cancer; Stage IIIB Rectal Cancer; Stage IIIC Colon Cancer; Stage IIIC Gastric Cancer; Stage IIIC Rectal Cancer; Stage IV Gastric Cancer; Stage IV Pancreatic Cancer; Stage IVA Colon Cancer; Stage IVA Gallbladder Cancer; Stage IVA Rectal Cancer; Stage IVB Colon Cancer; Stage IVB Gallbladder Cancer; Stage IVB Rectal Cancer; Unresectable Extrahepatic Bile Duct Cancer

 

Last Updated: 6 Jan 2016

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