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?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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 45 free, full-text research articles on human participants. First 3 results:

Delayed diagnosis of extrapulmonary tuberculosis presenting as fever of unknown origin in an intermediate-burden country.
 

Author(s): Jeong-Han Kim, Eu Suk Kim, Kang-Il Jun, Hyun Gul Jung, Ji Hwan Bang, Pyeong Gyun Choe, Wan Beom Park, Kyoung-Ho Song, Hong Bin Kim, Nam Joong Kim, Myoung-Don Oh, Sang-Won Park

Journal:

 

Tuberculosis (TB), especially extrapulmonary tuberculosis (EPTB), is an important cause of fever of unknown origin (FUO) in TB-burdened areas. Little information is known about patients with EPTB with clinical features presenting as FUO and about the factor of delaying the diagnosis.

Last Updated: 31 Dec 1969

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Long-term prognosis, treatment, and outcome of patients with fever of unknown origin in whom no diagnosis was made despite extensive investigation: A questionnaire based study.
 

Author(s): Catharina M Mulders-Manders, Celeste Engwerda, Anna Simon, Jos W M van der Meer, Chantal P Bleeker-Rovers

Journal: Medicine (Baltimore). 2018 Jun;97(25):e11241.

 

In 30-50% of patients with fever of unknown origin (IUO) no explanation for the fever can be found. Prognosis and effects of empirical treatment of these patients are largely unknown.With this retrospective, questionnaire based corort study in all unexplained FUO patients in an expert ...

Last Updated: 31 Dec 1969

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Validity of using multiple imputation for "unknown" stage at diagnosis in population-based cancer registry data.
 

Author(s): Qingwei Luo, Sam Egger, Xue Qin Yu, David P Smith, Dianne L O'Connell

Journal:

 

The multiple imputation approach to missing data has been validated by a number of simulation studies by artificially inducing missingness on fully observed stage data under a pre-specified missing data mechanism. However, the validity of multiple imputation has not yet been assessed ...

Last Updated: 31 Dec 1969

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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:

Diagnosis and empirical treatment of fever of unknown origin (FUO) in adult neutropenic patients: guidelines of the Infectious Diseases Working Party (AGIHO) of the German Society of Hematology and Medical Oncology (DGHO).
 

Author(s): W J Heinz, D Buchheidt, M Christopeit, M von Lilienfeld-Toal, O A Cornely, H Einsele, M Karthaus, H Link, R Mahlberg, S Neumann, H Ostermann, O Penack, M Ruhnke, M Sandherr, X Schiel, J J Vehreschild, F Weissinger, G Maschmeyer

Journal: Ann. Hematol.. 2017 Nov;96(11):1775-1792.

 

Fever may be the only clinical symptom at the onset of infection in neutropenic cancer patients undergoing myelosuppressive chemotherapy. A prompt and evidence-based diagnostic and therapeutic approach is mandatory. A systematic search of current literature was conducted, including ...

Last Updated: 31 Dec 1969

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Diagnosis and management of isolated pituitary metastasis from adenocarcinoma of unknown origin presenting as loss of libido.
 

Author(s): Julien Feghaly, George Astras

Journal:

 

Pituitary gland metastasis from primary tumours is uncommon on its own. Rarely, some of these primary tumours may be of unknown origin. This metastasis to the pituitary gland could manifest as diabetes insipidus, cranial nerve palsies, headaches, fatigue and other symptoms. In rare ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

ED50 and ED95 of Intranasal Dexmedetomidine in Pediatric Patients Undergoing Transthoracic Echocardiography Study
 

Status: Recruiting

Condition Summary: Patients for Transthoracic Echocardiography; Unknown Diagnosis

 

Last Updated: 18 Nov 2017

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Diagnosing Clinically Significant Prostate Cancer In African American and White Men With Elevated PSA
 

Status: Recruiting

Condition Summary: Health Status Unknown; Elevated PSA

 

Last Updated: 12 Sep 2018

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Last Updated: 2 Aug 2018

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