Preferred Name | Ectrodactyly | |
Synonyms |
Ectrodactyly Split-Hand/Foot Malformation |
|
Definitions |
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75000 |
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code |
C75000 |
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Concept_In_Subset | ||
Contributing_Source |
NICHD |
|
DEFINITION |
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. |
|
FULL_SYN |
Ectrodactyly Split-Hand/Foot Malformation |
|
label |
Ectrodactyly |
|
Legacy Concept Name |
Split_Hand_Foot_Malformation |
|
Preferred_Name |
Ectrodactyly |
|
prefixIRI |
Thesaurus:C75000 |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0265554 |
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subClassOf |