About: Split-Hand/Foot Malformation

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Split-Hand/Foot Malformation
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Split-Hand/Foot Malformation
UMLS_CUI	C0265554
Contributing_Source	NICHD
Legacy_Concept_Name	Split_Hand_Foot_Malformation
FULL_SYN	EctrodactylyPTNICHD Split-Hand/Foot MalformationPTNCI
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.NCI
code	C75000
is rdfs:subClassOf of	Split-Hand/Foot Malformation Type 5 Split-Hand/Foot Malformation Type 1 Split-Hand/Foot Malformation Type 3
is someValuesFrom of	nodeID://b718299 nodeID://b721465

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