Preferred Label : ectromelia;
MeSH definition : Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept
includes amelia, hemimelia, phocomelia, and sirenomelia.;
MeSH synonym : Congenital Limb Reduction Deformity; Congenital Limb Reduction Deformities;
Related MeSH term : amelia; phocomelia; sirenomelia; hemimelia; Mermaid Malformation; Malformation, Mermaid; Sirenomelus; Sirenomelia Sequence; Sequence, Sirenomelia; Sirenomelia Sequences; Fused Legs and Feet; Mermaid Syndrome; Syndrome, Mermaid;
MeSH annotation : abnorm of arm or leg: see Dorland for definition & inclusions; do not use /congen
& do not coord with INFANT, NEWBORN, DISEASES;
Wikipedia link : https://en.wikipedia.org/wiki/Sirenomelia;
Origin ID : D004480;
UMLS CUI : C0013589;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
- AMELIA [WHO-ART Included Term]
False automatic mappings
HPO term
Manual BTNT mappings - CISMeF
Manual NTBT mappings (CISMeF)
Record concept(s)
Related MeSH Supplementary Concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept
includes amelia, hemimelia, phocomelia, and sirenomelia.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1822
false
true
false
France
scientific and technical information
ectromelia
dysplasia epiphysealis hemimelica
patients
Dysplasia epiphysealis hemimelica
---
http://asso.denise.legrix.free.fr/
France
French
ectromelia
child
adult
Children with Disabilities
Persons with Disabilities
association of patients
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=199315
2011
France
scientific and technical information
ectromelia
Absence of Tibia
clubfoot
absence of tibia
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=93323
2011
France
scientific and technical information
ectromelia
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=93322
2011
France
scientific and technical information
fibula
absence of tibia
ectromelia
Absence of Tibia
tibia
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=93320
2011
France
scientific and technical information
ectromelia
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=93321
2011
France
scientific and technical information
hand
ectromelia
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2879
2006
France
French
popular works
rare diseases
signs and symptoms
Persons with Disabilities
clinical trials as topic
ectromelia
ectromelia
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3169
2005
false
true
false
France
infant
fetus
scientific and technical information
ectromelia
---