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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
R R R- R0 R1 R2 R3 R4 RA RB RC RD RE RF RG RH RI RK RM RN RO RP RQ RR RS RT RU RV RW RX RY
RS RS RS- RSB RSC RSE RSH RSN RSP RSR RSS RSV

RSH Syndrome

[autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities; the biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol. ( CSP )]
UMLS (CSP) C0175694
 
Congenital Abnormality
Disease or Syndrome
Relation/PAR: Abnormalities, Multiple
Lipid Metabolism, Inborn Errors
syndrome
inborn lipid/lipoprotein disorder
congenital disorder
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