Primary Ciliary Dyskinesia: Identification of specific severity criteria and phenotype-genotype correlation study

{
"level_sex_clusion_I": [
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D005260"
},
"value": "Female"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D008297"
},
"value": "Male"
}
],
"level_age_clusion_I": [
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D007231"
},
"value": "Infant, Newborn (birth to 28 days)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D007223"
},
"value": "Infant (28 days to 2 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D002675"
},
"value": "Child, Preschool (2 to 5 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D002648"
},
"value": "Child (6 to 12 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D000293"
},
"value": "Adolescent (13 to 18 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D055815"
},
"value": "Young Adult (19 to 24 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D000328"
},
"value": "Adult (25 to 44 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D008875"
},
"value": "Middle Aged (45 to 64 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D000368"
},
"value": "Aged (65 to 79 years)"
}
],
"level_type_clusion_I": "Patients population",
"level_type_clusion_other": "",
"clusion_I": "All prevalent patients and incidents included in the RaDiCo-DCP cohort must: • Have a confirmed diagnosis of PCD based on at least one of the following diagnostic criteria: Kartagener syndrome (association of chronic sinusitis, bronchiectasis and situs inversus), and\/or evidence of specific abnormalities of the ciliary ultrastructure, and\/or identification of unambiguous mutations in a PCD gene. • Have at least one annual follow-up visit in accordance with standard practice. Patients who meet the following criteria will not be included: • Patient with an unconfirmed diagnosis of PCD; • Patient with a concomitant progressive pathology that may interfere with the evaluation of PCD-related manifestations.",
"clusion_E": "Patients meeting the following criteria will not be eligible for inclusion:\r\nPatient with an unconfirmed diagnosis of PCD.\r\nPatient with a concomitant progressive condition that may interfere with the assessment of PCD-related manifestations."
}