SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/767133009
http://purl.bioontology.org/ontology/SNOMEDCT/767133009
Preferred Name

Double heterozygous familial hypercholesterolemia
Synonyms
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)
Compound heterozygous familial hypercholesterolaemia
Double heterozygous familial hypercholesterolaemia
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
Compound heterozygous familial hypercholesterolemia
Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
Type http://www.w3.org/2002/07/owl#Class

All Properties

prefLabel
Double heterozygous familial hypercholesterolemia
altLabel
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)
Compound heterozygous familial hypercholesterolaemia
Double heterozygous familial hypercholesterolaemia
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
Compound heterozygous familial hypercholesterolemia
Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
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Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
interprets
Effective time
20180731
cui
C4707953
CTV3ID
XV63w
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000448009
tui
T047
Active
1
notation
767133009
INACTIVATION INDICATOR
900000000000483008
type
subClassOf
Associated finding of
Due to
Subset member
447562003~MAPRULE~TRUE
447562003~MAPTARGET~E78.0
6011000124106~MAPADVICE~ALWAYS E78.011
6011000124106~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS E78.01
447562003~MAPGROUP~2
447562003~MAPADVICE~ALWAYS E78.0
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XV63w
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~E78.01
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~E78.8
447562003~MAPADVICE~ALWAYS E78.8
900000000000490003~VALUEID~900000000000483008
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~E78.011
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