Table 2.
Suggested data set for a registry for undiagnosed patients
| Item group | Item No | Item concept | Concept description | Content coding |
|---|---|---|---|---|
| 1. Personal data/information | 1.1 | Patient's first name | Patient's first name as specified on the birth certificate or identity card | |
| 1.2 | Patient's (married) last name | Patient's (married) last name | ||
| 1.3 | Patient's birth name | Patient's birth name | ||
| 1.4 | Patient's date of birth | Patient's date of birth as recorded on the birth certificate and whether Information is recorded for a foetus | ||
| 1.5 | City of residence | Patient's current city of residence | ||
| 1.6 | Gender | Patient's gender |
Female Male Undetermined Unknown (for the foetus) |
|
| 2. Family information | 2.1 | Patient born from a relationship between related parties | Is the patient born from a relationship between related parties? |
Unknown No, suspected No, confirmed Yes, suspected Yes, confirmed |
| 3. Vital Status | 3.1 | Patient's vital status upon inclusion into the registry | Is the patient still alive? |
Alive Dead |
| 3.2 | Patient's date of death | Patient's date of death | ||
| 4. Care Pathway | 4.1 | Patient's date of inclusion in the RD centre | Date at which the patient was recorded in the RD centre. Please enter the date when the patient was included in the internal medical information system | |
| 5. Disease history | 5.1 | Point in time at onset | When were the symptoms first noticed? (Only fill date input fields if "lifetime" was selected) |
Antenatal At birth Undetermined lifetime 'Year of first manifestation' 'Month of first manifestation' 'Day of first manifestation |
| 6. Diagnosis upon inclusion into the registry | 6.1 | Diagnosis code | Prior Diagnosis (Code) | |
| 6.2 | Type of code | Specify which type of code is used—use ICD-10 if possible- |
ICD-10 Alpha-ID Orphacode |
|
| 6.3 | Description of the chosen Code | Description of the chosen code. Please copy the EXACT text belonging to the code. Do NOT enter free text | ||
| 6.4 | Status of diagnosis | Specify whether the diagnosis is already confirmed or only suspected |
Unknown Confirmed Suspected |
|
| 7. Symptom history | 7.1 | Diagnosis code (Symptom) | Diagnosis (code) of the symptom | |
| 7.2 | Type of code (Symptom) | Specify which type of code is used—use HPO if possible- |
HPO SNOMED-CT |
|
| 7.3 | Symptom Ontology description | Description from the selected code | ||
| 7.4 | Symptom priority | Symptom priority |
Unknown High Medium Low |
|
| 7.5 | Year of first manifestation | Year of first manifestation | ||
| 7.6 | Month of first manifestation | Month of first manifestation |
Unknown January February March April May June July August September October November December |
|
| E1. Vital Status | E1.1 | Patient's vital status | Is the patient still alive |
Alive Dead Lost to follow up Discharged from registry |
| E1.2 | Patient's date of death | Patient's date of death | ||
| E1.3 | Death due to the rare disease | Is the death due to the rare disease the patient is suffering from? |
Yes No Unknown |
|
| E2. Further Symptoms | Diagnosis code (Symptom) | Diagnosis (code) of the symptom | ||
| E2.1 | Type of code (Symptom) | Specify which type of code is used—use HPO if possible- |
HPO SNOMED-CT |
|
| E2.2 | Symptom Ontology description | Description from the selected code | ||
| E2.3 | Symptom priority | Symptom priority |
Unknown High Medium Low |
|
| E2.4 | Year of first manifestation | Year of first manifestation | ||
| E2.5 | Month of first manifestation | Month of first manifestation |
Unknown January, February March, April May, June July, August September October November December |
|
| E3. Further Diagnosis | E3.1 | Diagnosis code | Prior Diagnosis (Code) | |
| E3.2 | Type of code | Specify which type of code is used—use ICD-10 if possible- |
ICD-10 Alpha-ID Orphacode |
|
| E3.3 | Description of the chosen Code | Description of the chosen code. Please copy the EXACT text belonging to the code. Do NOT enter free text | ||
| E3.4 | Status of diagnosis | Specify whether the diagnosis is already confirmed or only suspected |
Unknown Confirmed Suspected |
|
| E4. Causal Diagnosis (final) | E4.1 | Diagnosis code | Diagnosis (Code) | |
| E4.2 | Type of code | Specify which type of code is used—use ICD-10 if possible- |
ICD-10 Alpha-ID Orphacode |
|
| E4.3 | Description of the chosen Code | Description of the chosen code. Please copy the EXACT text belonging to the code. Do NOT enter free text | ||
| E4.4 | Status of diagnosis | Specify whether the diagnosis is already confirmed or only suspected |
Unknown Confirmed Suspected |
|
| E4.5 | Rare Disease | Is the newly found diagnosis a rare disease? | (Click box) | |
| E4.6 | Year of diagnosis | Year of diagnosis | ||
| E4.7 | Month of diagnosis | Month of diagnosis |
Unknown January February March April May June July August September October November December |
|
| E5. Research | E5.1 | Agreement to be contacted for a protocol | Does the patient give permission to be contacted for a research protocol? |
Yes No Unknown |
| E5.2 | Patient non-opposition to the reuse of data | Is the patient non-opposite to the reuse of data? |
Yes No Unknown |
|
| E5.3 | Patient having previously given a biological sample for research | Has the patient already given a biological sample for research? |
Yes No Unknown |