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Sulfhemoglobinemia, congenital

MedGen UID:
350024
•Concept ID:
C1861437
•
Congenital Abnormality; Disease or Syndrome
Synonym: Sulfhemoglobinemia, Congenital
 
Monarch Initiative: MONDO:0008502
OMIM®: 185460

Clinical features

From HPO
Abnormality of blood and blood-forming tissues
MedGen UID:
163092
•Concept ID:
C0850715
•
Finding
An abnormality of the hematopoietic system.
See: Feature record | Search on this feature
Cyanosis
MedGen UID:
1189
•Concept ID:
C0010520
•
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Congenital sulfhemoglobin and transient methemoglobinemia secondary to diarrhoea.
Pandey J, Chellani H, Garg M, Verma A, Gupta K, Talib VH
Indian J Pathol Microbiol 1996 Jul;39(3):217-20. PMID: 8972152

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