Inglês

Eligibility Criteria

6 Formulários  
Inclusion and exclusion criteria
Descrição

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious that falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.
Descrição

The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious that falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C4022738
UMLS CUI [1,4]
C0439660
UMLS CUI [1,5]
C1385132
UMLS CUI [1,6]
C0431399
UMLS CUI [1,7]
C2034534
UMLS CUI [1,8]
C5142998
UMLS CUI [1,9]
C0086282
UMLS CUI [1,10]
C0522476
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C1706256
UMLS CUI [2,3]
C1518422
UMLS CUI [2,4]
C0019247
UMLS CUI [2,5]
C2828394
UMLS CUI [2,6]
C0178795
UMLS CUI [2,7]
C1457869
UMLS CUI [2,8]
C0014412
UMLS CUI [2,9]
C4022738
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Similar models

Eligibility Criteria

6 Formulários
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious that falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.
Item
The inclusion criteria are these cases with likely inherited NDD for which the genetic cause is not known or is not obvious that falls within the Joubert syndrome spectrum to include the MESH terms listed. Parents must be consanguineous, and there must be more than one affected member per family. In some instances, these will be affected siblings and in other families this will be affected cousins. The exclusion criteria are those cases likely due to non-genetic factors such as environmental or pregnancy/labor/delivery issues, any cases with neurodegenerative components, or cases in which the genetic cause is obvious or already known.
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C4022738 (UMLS CUI [1,3])
C0439660 (UMLS CUI [1,4])
C1385132 (UMLS CUI [1,5])
C0431399 (UMLS CUI [1,6])
C2034534 (UMLS CUI [1,7])
C5142998 (UMLS CUI [1,8])
C0086282 (UMLS CUI [1,9])
C0522476 (UMLS CUI [1,10])
C0680251 (UMLS CUI [2,1])
C1706256 (UMLS CUI [2,2])
C1518422 (UMLS CUI [2,3])
C0019247 (UMLS CUI [2,4])
C2828394 (UMLS CUI [2,5])
C0178795 (UMLS CUI [2,6])
C1457869 (UMLS CUI [2,7])
C0014412 (UMLS CUI [2,8])
C4022738 (UMLS CUI [2,9])
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