commit b116a922e5dbc6d1e710e6df2ff6dd8b181e3236 Author: davidlagorce Date: Mon Feb 1 13:09:28 2021 +0100 FEB 2021 diff --git a/Rare diseases and functional consequences/en_funct_consequences.xml b/Rare diseases and functional consequences/en_funct_consequences.xml old mode 100644 new mode 100755 index d13d957..1ead8a9 --- a/Rare diseases and functional consequences/en_funct_consequences.xml +++ b/Rare diseases and functional consequences/en_funct_consequences.xml @@ -1,5 +1,5 @@ - + Creative Commons Attribution 4.0 International @@ -7,7 +7,7 @@ https://creativecommons.org/licenses/by/4.0/legalcode - + 893 @@ -154198,6 +154198,456 @@ + + + 1941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 + Juvenile absence epilepsy + + Disease + + + Disorder + + + + + Focusing attention + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Focusing attention + + + Occasional + + + Transient limitation + + + Moderate + + n + Disability + y + + + + Participating in a conversation + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Managing one's health (diet, medications, prevention, needs, assistance, monitoring) + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Handling stress, responsabilities, emergencies and ensuring one's safety + + + Occasional + + + Transient limitation + + + Moderate + + n + Disability + y + + + + Handling emotions and mood + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Driving + + + Very frequent + + + Transient limitation + + + Complete + + n + Disability + y + + + + Shopping + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Cooking/preparing meals + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Doing housework + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Looking after/helping others + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Attending preschool + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Attending mainstream school + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Attending school in an adapted mainstream/special environment + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Learning a profession (vocational training/apprenticeship) in the standard environment + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Accessing higher education + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Engaging in paid work in a standard environment + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Seeking employment + + + Frequent + + + Permanent limitation + + + Low + + n + Disability + y + + + + Seeking employment + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Performing professional tasks + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Carrying out daily routines + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Practicing sports + + + Occasional + + + Transient limitation + + + Low + + n + Disability + y + + + + Light intensity + + + + + y + Environmental factor + n + + + + Light quality + + + + + y + Environmental factor + n + + + + Day/night cycles + + + + + y + Environmental factor + n + + + + Expert + y + y + 2021-01-14 00:00:00.0 + + Validated + + + Activity limitation/participation restriction + + + 85436 @@ -163712,7 +164162,7 @@ 158687 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 - Lethal acantholytic epidermolysis bullosa + Lethal acantholytic erosive disorder Disease @@ -445818,7 +446268,7 @@ 832 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 - Succinyl-CoA:3-ketoacid CoA transferase deficiency + Succinyl-CoA:3-oxoacid CoA transferase deficiency Disease @@ -469352,7 +469802,7 @@ 528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Berardinelli-Seip congenital lipodystrophy + Congenital generalized lipodystrophy Disease