National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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

code

C75000

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

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

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0265554

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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