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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D000090542
http://purl.bioontology.org/ontology/MESH/D000090542
|
|---|---|
| Preferred Name | Homozygous Familial Hypercholesterolemia |
| Definitions |
A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age.
|
| Synonyms |
HoFH
Hypercholesterolemias, Homozygous Familial
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age. |
|---|---|
| altLabel |
HoFH
Hypercholesterolemias, Homozygous Familial
|
| prefLabel | Homozygous Familial Hypercholesterolemia
|
| Machine permutation | 2022
|
| HN | 2022
|
| type | |
| tui | T047
|
| TERMUI |
T001104126
T001104144
|
| TH | NLM (2022)
|
| MMR | 20220413
|
| notation | D000090542
|
| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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|
| FX | D011973
|
| DX | 20220101
|
| cui | C0342881
|
| DC | 1
|
| MN |
C16.320.565.398.481.500
C18.452.584.563.481.500
C18.452.584.500.500.644.475.500
C18.452.648.398.481.500
|
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| MDA | 20210407
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |