Hermanski-Pudlak Syndrome MeSH Descriptor Data 2024

MeSH Heading: Hermanski-Pudlak Syndrome
Tree Number(s): C11.270.040.545.400; C15.378.100.100.515; C15.378.100.685.400; C15.378.140.735.400; C15.378.463.735.400; C16.320.099.515; C16.320.290.040.100.400; C16.320.565.100.102.100.400; C16.320.850.080.100.400; C17.800.621.440.102.100.400; C17.800.827.080.100.400; C18.452.648.100.102.100.400
Unique ID: D022861
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D022861
Scope Note: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
Entry Term(s): Hermansky-Pudlak Syndrome
NLM Classification #: WR 265
Previous Indexing: Albinism, Oculocutaneous (1990-2000)
Public MeSH Note: 2001
History Note: 2001
Date Established: 2001/01/01
Date of Entry: 2000/06/22
Revision Date: 2016/07/01

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
  - Albinism [C11.270.040]
    - Albinism, Oculocutaneous [C11.270.040.545]
      - Hermanski-Pudlak Syndrome [C11.270.040.545.400]

Hemic and Lymphatic Diseases [C15]
- Hematologic Diseases [C15.378]
  - Blood Coagulation Disorders [C15.378.100]
    - Blood Coagulation Disorders, Inherited [C15.378.100.100]

Hemic and Lymphatic Diseases [C15]
- Hematologic Diseases [C15.378]
  - Blood Coagulation Disorders [C15.378.100]
    - Platelet Storage Pool Deficiency [C15.378.100.685]
      - Hermanski-Pudlak Syndrome [C15.378.100.685.400]

Hemic and Lymphatic Diseases [C15]
- Hematologic Diseases [C15.378]
  - Blood Platelet Disorders [C15.378.140]
    - Platelet Storage Pool Deficiency [C15.378.140.735]
      - Hermanski-Pudlak Syndrome [C15.378.140.735.400]

Hemic and Lymphatic Diseases [C15]
- Hematologic Diseases [C15.378]
  - Hemorrhagic Disorders [C15.378.463]
    - Platelet Storage Pool Deficiency [C15.378.463.735]
      - Hermanski-Pudlak Syndrome [C15.378.463.735.400]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Blood Coagulation Disorders, Inherited [C16.320.099]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Eye Diseases, Hereditary [C16.320.290]
    - Albinism [C16.320.290.040]
      - Albinism, Oculocutaneous [C16.320.290.040.100]
        
        Hermanski-Pudlak Syndrome [C16.320.290.040.100.400]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
      - Albinism [C16.320.565.100.102]
        
        Albinism, Oculocutaneous [C16.320.565.100.102.100]
        
        Hermanski-Pudlak Syndrome [C16.320.565.100.102.100.400]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Skin Diseases, Genetic [C16.320.850]
    - Albinism [C16.320.850.080]
      - Albinism, Oculocutaneous [C16.320.850.080.100]
        
        Hermanski-Pudlak Syndrome [C16.320.850.080.100.400]

Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
  - Pigmentation Disorders [C17.800.621]
    - Hypopigmentation [C17.800.621.440]
      - Albinism [C17.800.621.440.102]
        
        Albinism, Oculocutaneous [C17.800.621.440.102.100]
        
        Hermanski-Pudlak Syndrome [C17.800.621.440.102.100.400]

Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
  - Skin Diseases, Genetic [C17.800.827]
    - Albinism [C17.800.827.080]
      - Albinism, Oculocutaneous [C17.800.827.080.100]
        
        Hermanski-Pudlak Syndrome [C17.800.827.080.100.400]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
      - Albinism [C18.452.648.100.102]
        
        Albinism, Oculocutaneous [C18.452.648.100.102.100]
        
        Hermanski-Pudlak Syndrome [C18.452.648.100.102.100.400]

Hermanski-Pudlak Syndrome Preferred

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