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Table 2 Suggested data set for a registry for undiagnosed patients

From: How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system

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