CDE Detailed Report

Disease: Mitochondrial Disease
Subdomain Name: General Health History
CRF: Medical 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
C06246 Medical history condition type MedHistCondTyp Type of pre-specified medical condition/disease asked about when collecting the medical history from the participant or found documented in the medical record Type of pre-specified medical condition/disease asked about when collecting the medical history from the participant/subject or found documented in the medical record Medical History Term Acute fatty liver of pregnancy;Allergies, specify;Aphasia;Asthma;Ataxia;Attention-deficit/hyperactivity disorder (ADHD);Augmentative communication device;Autism spectrum disorder;Behavior problems (aggression, temper tantrums);Blindness/optic atrophy;Cardiac conduction delays;Cardiac pacemaker;Cardiac transplantation;Cardiomyopathy (dilatative);Cardiomyopathy (hypertrophic);Cataract surgery;Cataracts;Chorea;Chronic obstructive pulmonary disease;Cochlear implantation;Cognitive regression;Depression;Diabetes mellitus;Dysphagia;Dystonia;Epilepsia partialis continua;Epilepsy - focal dyscognitive;Epilepsy - generalized;Epilepsy - simple focal;Exercise intolerance;Failure to Thrive;Fine motor delay;Fractures;Gross motor delay;G-tube and fundoplication;Hearing loss (sensorineural);Hepatic failure;Hirsutism;Hypoparathyroidism;Hypopigmentation;Hypotonia;Immunodeficiency;Intellectual disability;Intestinal pseudo-obstruction;Leukopenia;Liver transplantation;Memory problems;Microcephaly (acquired or post natal);Microcephaly (congenital);Migraine headaches;Miscarriages;Motor neuron disease;mtDNA encoded (deletion);mtDNA encoded (maternal point mutation);Muscle wasting;Myelopathy;Myoclonic epilepsy;Myoclonus;Myopathy (congenital);Myopathy (postnatal/acquired);Neuromuscular junction abnormalities (acquired);Neuromuscular junction abnormalities (congenital);Nuclear encoded mitochondrial disorder (autosomal dominant);Nuclear encoded mitochondrial disorder (autosomal recessive);Nuclear encoded mitochondrial disorder (X-linked recessive);Obstructive sleep apnea;Orthotics/Ankle Foot Orthotics (AFOs);Other condition, specify;Other surgery, specify;Peripheral neuropathy (motor, sensory, motor/sensory);Ptosis surgery;Ptosis/ophthalmoplegia;Recurrent encephalopathy (Leigh syndrome);Recurrent fevers;Recurrent myoglobinuria;Recurrent pneumonia;Recurrent vomiting;Reflux;Renal failure;Renal transplantation;Renal tubular acidosis;Retinitis pigmentosa;Schizophrenia;Scoliosis;Scoliosis surgery;Seating;Seizures;Selective learning problems;Short stature;Sideroblastic anemia;Social/adaptive delay;Spasticity;Speech and language delay;Strokes or stroke like episodes;Sudden Infant Death Syndrome (SIDS)/Apparent Life-threatening Event (ALTE);Tendoachilles releases;Thrombocytopenia;Tremor;Walker;Wheelchair;Osteopenia/osteoporosis Acute fatty liver of pregnancy;Allergies, specify;Aphasia;Asthma;Ataxia;Attention-deficit/hyperactivity disorder (ADHD);Augmentative communication device;Autism spectrum disorder;Behavior problems (aggression, temper tantrums);Blindness/optic atrophy;Cardiac conduction delays;Cardiac pacemaker;Cardiac transplantation;Cardiomyopathy (dilatative);Cardiomyopathy (hypertrophic);Cataract surgery;Cataracts;Chorea;Chronic obstructive pulmonary disease;Cochlear implantation;Cognitive regression;Depression;Diabetes mellitus;Dysphagia;Dystonia;Epilepsia partialis continua;Epilepsy - focal dyscognitive;Epilepsy - generalized;Epilepsy - simple focal;Exercise intolerance;Failure to Thrive;Fine motor delay;Fractures;Gross motor delay;G-tube and fundoplication;Hearing loss (sensorineural);Hepatic failure;Hirsutism;Hypoparathyroidism;Hypopigmentation;Hypotonia;Immunodeficiency;Intellectual disability;Intestinal pseudo-obstruction;Leukopenia;Liver transplantation;Memory problems;Microcephaly (acquired or post natal);Microcephaly (congenital);Migraine headaches;Miscarriages;Motor neuron disease;mtDNA encoded (deletion);mtDNA encoded (maternal point mutation);Muscle wasting;Myelopathy;Myoclonic epilepsy;Myoclonus;Myopathy (congenital);Myopathy (postnatal/acquired);Neuromuscular junction abnormalities (acquired);Neuromuscular junction abnormalities (congenital);Nuclear encoded mitochondrial disorder (autosomal dominant);Nuclear encoded mitochondrial disorder (autosomal recessive);Nuclear encoded mitochondrial disorder (X-linked recessive);Obstructive sleep apnea;Orthotics/Ankle Foot Orthotics (AFOs);Other condition, specify;Other surgery, specify;Peripheral neuropathy (motor, sensory, motor/sensory);Ptosis surgery;Ptosis/ophthalmoplegia;Recurrent encephalopathy (Leigh syndrome);Recurrent fevers;Recurrent myoglobinuria;Recurrent pneumonia;Recurrent vomiting;Reflux;Renal failure;Renal transplantation;Renal tubular acidosis;Retinitis pigmentosa;Schizophrenia;Scoliosis;Scoliosis surgery;Seating;Seizures;Selective learning problems;Short stature;Sideroblastic anemia;Social/adaptive delay;Spasticity;Speech and language delay;Strokes or stroke like episodes;Sudden Infant Death Syndrome (SIDS)/Apparent Life-threatening Event (ALTE);Tendoachilles releases;Thrombocytopenia;Tremor;Walker;Wheelchair;Osteopenia/osteoporosis Alphanumeric

This CDE should be collected along with the "Medical history condition diagnosis indicator".

The medical history condition types are classified as follows:

Core: Failure to thrive; Short stature; Microcephaly (congenital); Microcephaly (acquired or post natal); Ptosis/ophthalmoplegia; Blindness/optic atrophy; Retinitis pigmentosa; Hearing loss (sensorineural); Cardiomyopathy (hypertrophic); Cardiac conduction delays; Obstructive sleep apnea; Intestinal pseudoobstruction; Recurrent vomiting; Hepatic failure; Renal failure; Renal tubular acidosis; Myopathy (congenital); Myopathy (postnatal/acquired); Muscle wasting; Recurrent myoglobinuria; Exercise intolerance; Peripheral neuropathy (motor, sensory, motor/sensory); Intellectual disability; Cognitive regression; Gross motor delay; Fine motor delay; Speech and language delay; Social/adaptive delay; Selective learning problems; Memory problems; Aphasia; Dysphagia; Dystonia; Chorea; Ataxia; Tremor; Myoclonus; Hypotonia; Spasticity; Myelopathy; Migraine headaches; Strokes or stroke like episodes; Recurrent encephalopathy (Leigh syndrome); Seizures; Epilepsy - generalized; Epilepsy - simple focal; Epilepsia partialis continua; Epilepsy - focal dyscognitive; Myoclonic epilepsy; Autism spectrum disorder; Attention-deficit/hyperactivity disorder (ADHD); Depression; Schizophrenia; Behavior problems (aggression, temper tantrums); Diabetes mellitus; Hypoparathyroidism; Sideroblastic anemia; Sudden Infant Death Syndrome (SIDS)/Apparent Life-threatening Event (ALTE); Cochlear implantation; Ptosis surgery; G-tube and fundoplication; Nuclear encoded mitochondrial disorder (autosomal recessive); Nuclear encoded mitochondrial disorder (autosomal dominant); Nuclear encoded mitochondrial disorder (X-linked recessive); mtDNA encoded mitochondrial disorder (maternal point mutation); mtDNA encoded mitochondrial disorder (deletion)

Supplemental: Recurrent fevers; Cataracts; Cardiomyopathy (dilatative); Chronic obstructive pulmonary disease; Asthma; Recurrent pneumonia; Reflux; Motor neuron disease; Neuromuscular junction abnormalities (congenital); Neuromuscular junction abnormalities (acquired); Scoliosis; Osteopenia/osteoporosis; Fractures; Hirsutism; Hypopigmentation; Leukopenia; Thrombocytopenia; Immunodeficiency; Allergies, specify; Miscarriages; Acute fatty liver of pregnancy; Cataract surgery; Cardiac transplantation; Cardiac pacemaker; Liver transplantation; Renal transplantation; Scoliosis surgery; Tendoachilles releases; Other surgery, specify; Wheelchair; Orthotics/Ankle Foot Orthotics (AFOs); Walker; Seating; Augmentative communication device; Other condition, specify

No references available Adult;Pediatric Supplemental 4.00 2024-02-29 15:42:40.0 Medical History General Health History Participant History and Family History

Multiple Pre-Defined Values Selected

C16012 Medical history condition diagnosis indicator MedclHistCondDiagnsInd Indicator of whether the participant has been diagnosed with the medical condition/disease Indicator of whether the participant has been diagnosed with the medical condition/disease Medical History? Yes;No;Unknown Yes;No;Unknown Alphanumeric

If there is a history of the condition (from Medical History Term column) in the participant, indicate YES, otherwise choose No, or Unknown.

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:42:42.0 Medical History General Health History Participant History and Family History

Single Pre-Defined Value Selected

C18793 Medical history condition other text MedHistCondOTH The free-text field related to 'Medical history condition type', specifying other text. Pre-specified medical condition/disease asked about when collecting the medical history from the participant or found documented in the medical record The free-text field related to 'Medical history condition type', specifying other text. Pre-specified medical condition/disease asked about when collecting the medical history from the participant or found documented in the medical record Other condition, specify Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:42:42.0 Medical History General Health History Participant History and Family History 255

Free-Form Entry

C58374 Other surgery performed text OthrSurgeryPerformedTxt Free-text field to specify other surgery(ies) performed on participant Free text field to specify other surgery(ies) performed on participant Other surgery, specify Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.10 2024-02-29 15:42:41.0 Medical History General Health History Participant History and Family History 255

Free-Form Entry

C59776 Allergy text AllergyTxt Free-text field to specify the participant's allergies Free-text field to specify the participant's allergies Allergies, specify Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 1.00 2024-02-29 15:42:41.0 Medical History General Health History Participant History and Family History 255

Free-Form Entry

C00314 Medical history taken date and time MedclHistTakenDateTime Date (and time, if applicable and known) the participant's medical history was taken Date (and time, if applicable and known) the participant 's medical history was taken Date medical history taken Date or Date & Time

Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (https://www.iso.org/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete date plus hours and minutes, etc.).

No references available Adult;Pediatric Core 3.20 2024-02-29 15:42:39.0 Medical History General Health History Participant History and Family History

Free-Form Entry

2179659
C00315 Medical history global assessment indicator MedclHistGlobalAssmtInd Indicator of whether the participant has a history of any medical problems/conditions Indicator of whether the participant has a history of any medical problems/conditions Does the participant have a history of any medical problems/conditions in the following body systems? Yes;No;Unknown Yes;No;Unknown Alphanumeric

Choose one. If this question is answered NO then the rest of the form is blank. If the question is answered YES then the medical history for at least one body system should be recorded.

No references available Adult;Pediatric Core 3.10 2024-02-29 15:42:39.0 Medical History General Health History Participant History and Family History

Single Pre-Defined Value Selected

3145578
C00316 Medical history condition end date and time MedclHistCondEndDateTime Date (and time, if applicable and known) for the end of an event in the participant's medical history Date (and time, if applicable and known) for the end of an event in the participant's medical history End Date Date or Date & Time

If the condition is NOT ongoing, enter the date when the condition ended. Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (https://www.iso.org/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete date plus hours and minutes, etc.).

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:42:44.0 Medical History General Health History Participant History and Family History

Free-Form Entry

3145557
C00317 Medical history condition start date and time MedclHistCondStrtDateTime Date (and time, if applicable and known) for the start of an event in the participant's medical history Date (and time, if applicable and known) for the start of an event in the participant's medical history Start Date Date or Date & Time

Enter the date when the condition started. Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (https://www.iso.org/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete date plus hours and minutes, etc.).

No references available Adult;Pediatric Supplemental 3.10 2024-02-29 15:42:43.0 Medical History General Health History Participant History and Family History

Free-Form Entry

2543596
C00319 Medical history condition ongoing indicator MedclHistCondOngoingInd Indicator of whether a medical condition/disease experienced by the participant is ongoing Indicator of whether a medical condition/disease experienced by the participant is ongoing Ongoing? Yes;No Yes;No Alphanumeric

If the condition is ongoing, indicate YES, otherwise choose No.

No references available Adult;Pediatric Supplemental 4.00 2024-02-29 15:42:44.0 Medical History General Health History Participant History and Family History

Single Pre-Defined Value Selected

2736881
CSV