CDE Detailed Report

Disease: Mitochondrial Disease
Subdomain Name: General Health History
CRF: Family History

Displaying 1 - 10 of 10
CDE ID CDE Name Variable Name Definition Short Description Question Text Permissible Values Description Data Type Disease Specific Instructions Disease Specific Reference Population Classification (e.g., Core) Version Number Version Date CRF Name (CRF Module / Guidance) Subdomain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C12663 Family history member with medical condition count FamHistMembWithMedclCondCt Count of family members with history of medical condition Count of family members with history of medical condition Number of Affected
Family Members
Numeric Values

Record the total number of family members affected by condition.

Adult;Pediatric Supplemental 4.00 2022-08-08 10:47:27.0 Family History General Health History Participant History and Family History

Free-Form Entry

1 99
C17681 Family history collection source FamHxCollSource The source of collected family history data The source of collected family history data Source from which medical and family history obtained? Participant;Family, specify relation;Unknown Participant;Family, specify relation;Unknown Alphanumeric

No instructions available

No references available Adult;Pediatric Core 4.00 2024-02-29 15:42:31.0 Family History General Health History Participant History and Family History

Single Pre-Defined Value Selected

C18678 Family history medical condition type other text FamHistMedclCondTypOTH The free-text field related to 'Family history medical condition type', specifying other text. Type of medical condition or health related event for which the family history is taken The free-text field related to 'Family history medical condition type', specifying other text. Type of medical condition or health related event for which the family history is taken Other, specify Alphanumeric

If a family member has a condition not listed, specify the condition under "Other".

No references available Adult;Pediatric Supplemental 1.10 2024-02-29 15:42:35.0 Family History General Health History Participant History and Family History 4000

Free-Form Entry

3165585
C18679 Family history medical condition relative type other text FamHistMedclCondReltvTypOTH The free-text field related to 'Family history medical condition relative type', specifying other text. Relationship of the family member or ancestor with the medical condition or health related event to the participant The free-text field related to 'Family history medical condition relative type', specifying other text. Relationship of the family member or ancestor with the medical condition or health related event to the participant Other, specify Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.10 2024-02-29 15:42:37.0 Family History General Health History Participant History and Family History 4000

Free-Form Entry

3165810
C19903 Familial inheritance status FamilInheritStat Status of familial inheritance of participant Status of familial inheritance of participant Pattern of inheritance Autosomal recessive;Autosomal dominant;X-linked recessive;Maternal inheritance;Sporadic Autosomal recessive;Autosomal dominant;X-linked recessive;Maternal inheritance;Sporadic Alphanumeric

No instructions available

No references available Adult;Pediatric Core 2.00 2024-02-29 15:42:35.0 Family History General Health History Participant History and Family History

Single Pre-Defined Value Selected

C52564 Data source family relation specify text DataSourceFamRelSpecifyTxt Free-text field specifying the relationship of the family member from which data on the participant was obtained Free-text field specifying the relationship of the family member from which data on the participant was obtained Family, specify relation Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.10 2024-02-29 15:42:33.0 Family History General Health History Participant History and Family History 255

Free-Form Entry

C00720 Family history medical condition type FamHistMedclCondTyp Type of medical condition or health related event for which the family history is taken Type of medical condition or health related event for which the family history is taken Condition Alzheimer's disease/dementia;Ataxia;Autism;Attention-deficit/hyperactivity disorder (ADHD);Depression;Schizophrenia;Developmental delays;Speech and language delays;Gross motor delays;Fine motor delays;Intellectual disability;Behavioral problems;Cognitive, language, motor and/or social regression;Epilepsy;Febrile seizures;Microcephaly: Congenital;Microcephaly: Acquired/postnatal onset;Memory loss;Migraine headaches;Cerebral palsy;Spasticity;Recurrent encephalopathy (Leigh syndrome);Stroke or stroke-like episodes;Learning disability;Toe walking;Muscle disease: Congenital;Muscle disease: acquired or postnatal onset;Exercise intolerance;Recurrent myoglobinuria;Neuromuscular junction: Postnatal onset;Neuromuscular junction: Congenital;Peripheral neuropathy;Mitochondrial disease;Miscarriages and pregnancy-related complications;Sudden Infant Death Syndrome (SIDS)/Apparent Life-threatening Event (ALTE);Child-onset diseases;Blindness;Ptosis/ophthalmoplegia;Sensorineural hearing loss;Failure to Thrive;Short stature;Cardiomyopathy (hypertrophic);Cardiac conduction block;Liver disease/failure;Renal disease (Fanconi syndrome);Intestinal pseudo-obstruction;Sideroblastic anemia;Diabetes mellitus;Hypoparathyroidism;Known genetic syndrome;Other, specify Alzheimer's disease/dementia;Ataxia;Autism;Attention-deficit/hyperactivity disorder (ADHD);Depression;Schizophrenia;Developmental delays;Speech and language delays;Gross motor delays;Fine motor delays;Intellectual disability;Behavioral problems;Cognitive, language, motor and/or social regression;Epilepsy;Febrile seizures;Microcephaly: Congenital;Microcephaly: Acquired/postnatal onset;Memory loss;Migraine headaches;Cerebral palsy;Spasticity;Recurrent encephalopathy (Leigh syndrome);Stroke or stroke-like episodes;Learning disability;Toe walking;Muscle disease: Congenital;Muscle disease: acquired or postnatal onset;Exercise intolerance;Recurrent myoglobinuria;Neuromuscular junction: Postnatal onset;Neuromuscular junction: Congenital;Peripheral neuropathy;Mitochondrial disease;Miscarriages and pregnancy-related complications;Sudden Infant Death Syndrome (SIDS)/Apparent Life-threatening Event (ALTE);Child-onset diseases;Blindness;Ptosis/ophthalmoplegia;Sensorineural hearing loss;Failure to Thrive;Short stature;Cardiomyopathy (hypertrophic);Cardiac conduction block;Liver disease/failure;Renal disease (Fanconi syndrome);Intestinal pseudo-obstruction;Sideroblastic anemia;Diabetes mellitus;Hypoparathyroidism;Known genetic syndrome;Other, specify Alphanumeric

The family history condition types are classified as follows:

Core: Ataxia;Autism;Attention-deficit/hyperactivity disorder (ADHD);Developmental delays;Speech and language delays;Gross motor delays;Fine motor delays;Intellectual disability;Behavioral problems;Cognitive, language, motor and/or social regression;Epilepsy;Recurrent encephalopathy (Leigh syndrome);Stroke or stroke-like episodes;Learning disability;Memory loss;Migraine headaches;Muscle disease: Congenital;Muscle disease: Acquired/postnatal onset;Exercise intolerance;Recurrent myoglobinuria;Peripheral neuropathy;Mitochondrial disease;Blindness;Ptosis/ophthalmoplegia;Sensorineural hearing loss;Failure to thrive;Short stature;Cardiomyopathy (hypertrophic);Cardiac conduction block;Liver disease/failure;Renal disease (Fanconi syndrome);Intestinal pseudoobstruction;Sideroblastic anemia;Diabetes mellitus;Hypoparathyroidism;

Supplemental: Alzheimer's disease/ dementia;Depression;Schizophrenia;Febrile seizures;Microcephaly: Congenital;Microcephaly: Acquired/postnatal onset;Cerebral palsy;Spasticity;Toe walking;Neuromuscular junction: Congenital;Neuromuscular junction: Postnatal onset;Miscarriages and pregnancy-related complications;Sudden Infant Death Syndrome (SIDS)/Apparent Life-threatening Event (ALTE);Child-onset diseases;Known genetic syndrome;Other, specify:

Memory loss should be considered relative to age-expected norms. This condition should be marked if there is an unexpected or sudden loss of memory, which may or may not be accompanied by neurological deterioration.

Adult;Pediatric Supplemental 4.00 2024-02-29 15:42:34.0 Family History General Health History Participant History and Family History

Multiple Pre-Defined Values Selected

3165585
C00721 Family history medical condition indicator FamHistMedclCondInd Indicator of whether a family member or first and second degree blood relatives of the participant has had a history of the particular medical condition or health related event Indicator of whether a family member or first and second degree blood relatives of the participant has had a history of the particular medical condition or health related event Family History? Yes;No;Unknown Yes;No;Unknown Alphanumeric

If there is a history of this condition in the first or second degree family, indicate YES, otherwise choose No, or Unknown

Adult;Pediatric Supplemental 4.00 2024-02-29 15:42:36.0 Family History General Health History Participant History and Family History

Single Pre-Defined Value Selected

3165788
C00722 Family history medical condition relative type FamHistMedclCondReltvTyp Relationship of the family member or ancestor with the medical condition or health related event to the participant Relationship of the family member or ancestor with the medical condition or health related event to the participant Relationship of Family Member to Participant Mother;Father;Full sibling;Half sibling;Child;Maternal grandfather;Maternal grandmother;Paternal grandfather;Paternal grandmother;Maternal aunt;Maternal cousin;Maternal niece/nephew;Maternal uncle;Other, specify:;Paternal aunt;Paternal cousin;Paternal niece/nephew;Paternal uncle;Grandchild;Great-grandchild Mother;Father;Full sibling;Half sibling;Child;Maternal grandfather;Maternal grandmother;Paternal grandfather;Paternal grandmother;Maternal aunt;Maternal cousin;Maternal niece/nephew;Maternal uncle;Other, specify:;Paternal aunt;Paternal cousin;Paternal niece/nephew;Paternal uncle;Grandchild;Great-grandchild Alphanumeric

Select the relationship from the options of the family members listed in the "relationship" of family member to participant" column. Record/choose more than one family member, if applicable

Adult;Pediatric Supplemental 4.00 2024-03-18 15:21:17.0 Family History General Health History Participant History and Family History

Multiple Pre-Defined Values Selected

3165810
C10813 Adopted indicator AdoptedInd Indicator of whether the participant was adopted Indicator of whether the participant was adopted Is the participant adopted? Yes;No;Unknown Yes;No;Unknown Alphanumeric

No instructions available

No references available Adult;Pediatric Core 3.10 2024-02-29 15:42:33.0 Family History General Health History Participant History and Family History

Single Pre-Defined Value Selected

CSV