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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75000
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75000
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|---|---|
| Preferred Name | Ectrodactyly |
| 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.
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| Synonyms |
Ectrodactyly
Split-Hand/Foot Malformation
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Ectrodactyly
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|---|---|
| Legacy Concept Name |
Split_Hand_Foot_Malformation
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| Preferred_Name |
Ectrodactyly
|
| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C75000
|
| 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.
|
| UMLS_CUI |
C0265554
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| code |
C75000
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| subClassOf | |
| type | |
| FULL_SYN |
Ectrodactyly
Split-Hand/Foot Malformation
|
| Contributing_Source |
NICHD
|
| Concept_In_Subset |
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