Preferred Label : blepharophimosis;
MeSH definition : The abnormal narrowness of the palpebral fissure in the horizontal direction caused
by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed);
MeSH synonym : blepharophimoses;
MeSH annotation : eyelid abnorm; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;
Wikipedia link : https://en.wikipedia.org/wiki/Blepharophimosis;
Origin ID : D016569;
UMLS CUI : C0005744;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
HPO term
Record concept(s)
Related MeSH Supplementary Concept(s)
Semantic type(s)
UMLS correspondences (same concept)
The abnormal narrowness of the palpebral fissure in the horizontal direction caused
by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=572354
2021
France
scientific and technical information
Blepharophimosis
blepharophimosis syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Ptosis
blepharophimosis
Epicanthus
blepharoptosis
blepharophimosis syndrome type 1
van der hoeve halbertsma waardenburg gualdi syndrome
waardenburg syndrome
menopause, premature
skin abnormalities
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1968
false
true
false
France
scientific and technical information
ear
syndrome
blepharophimosis
telecanthus
telecanthus
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1352
false
true
false
France
scientific and technical information
blepharophimosis
heart diseases
radius
syndrome
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=126
2014
true
France
French
resource guides
blepharophimosis
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=261579
2011
false
false
false
France
scientific and technical information
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis syndrome type 1
blepharophimosis
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis syndrome type 2
blepharoptosis
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=261572
2011
France
scientific and technical information
blepharoptosis
point mutation
blepharophimosis syndrome type 2
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis syndrome type 1
blepharophimosis
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=261559
2011
France
scientific and technical information
blepharoptosis
monosomy
blepharophimosis syndrome type 1
blepharophimosis syndrome type 2
blepharoptosis
blepharophimosis
---