| Descriptor English: | Hermanski-Pudlak Syndrome | ||||
| Descriptor Spanish: |
Síndrome de Hermanski-Pudlak
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| Descriptor Portuguese: | Síndrome de Hermanski-Pudlak | ||||
| Descriptor French: | Syndrome d'Hermanski-Pudlak | ||||
| Entry term(s): |
Hermanski Pudlak Syndrome Hermansky Pudlak Syndrome Hermansky-Pudlak Syndrome |
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| 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 |
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| RDF Unique Identifier: | https://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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Albinism, Oculocutaneous (1990-2000) |
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| Public MeSH Note: | 2001 |
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| History Note: | 2001 |
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| DeCS ID: | 35314 | ||||
| Unique ID: | D022861 | ||||
| NLM Classification: | WR 267 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2001/01/01 | ||||
| Date of Entry: | 2000/06/22 | ||||
| Revision Date: | 2016/07/01 |
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DISEASES
Eye Diseases [C11]Eye Diseases
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Hermanski-Pudlak Syndrome
- Preferred
| Concept UI |
M0024620 |
| Scope note | Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin. |
| Preferred term | Hermanski-Pudlak Syndrome |
| Entry term(s) |
Hermanski Pudlak Syndrome Hermansky Pudlak Syndrome Hermansky-Pudlak Syndrome |
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