About: Congenital Methemoglobinemia

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Attributes	Values
rdf:type	Class
rdfs:label	Congenital Methemoglobinemia
rdfs:subClassOf	Congenital Hematological Disorder Methemoglobinemia
Has_NICHD_Parent	Congenital Hematological Disorder Anemia
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Congenital Methemoglobinemia
UMLS_CUI	C0272087
Contributing_Source	NICHD
FULL_SYN	Congenital MethemoglobinemiaPTNCI Congenital MethemoglobinemiaPTNICHD
DEFINITION	Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.NCI
code	C98898

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