UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
A A A+ A- A0 A1 A2 A3 A4 A5 A6 A7 A8 A9 AA AB AC AD AE AF AG AH AI AJ AK AL AM AN AO AP AQ AR AS AT AU AV AW AX AY AZ
AL AL- AL7 ALA ALB ALC ALD ALE ALF ALG ALH ALI ALK ALL ALM ALN ALO ALP ALR ALS ALT ALU ALV ALW ALZ

Alagille syndrome

[autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis. ( CSP )]
UMLS (CSP) C0085280
 
Congenital Abnormality
Relation/PAR: Abnormalities, Multiple
bile obstruction
Cholestasis, Intrahepatic
Genetic Condition
syndrome
congenital heart disorder

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