| Descriptor English: | Zellweger Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Zellweger
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| Descriptor Portuguese: | Síndrome de Zellweger | ||||||
| Descriptor French: | Syndrome de Zellweger | ||||||
| Entry term(s): |
Cerebro Hepato Renal Syndrome Cerebro-Hepato-Renal Syndrome Cerebrohepatorenal Syndrome PBD, ZSS Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Spectrum, Zellweger Zellweger Disease Zellweger Like Syndrome Zellweger Spectrum Zellweger Syndrome Spectrum Zellweger's Syndrome Zellweger-Like Syndrome |
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| Tree number(s): |
C06.552.970 C10.228.140.163.100.968 C12.050.351.968.419.978 C12.200.777.419.978 C12.950.419.978 C16.131.077.970 C16.320.565.189.968 C16.320.565.663.970 C18.452.132.100.968 C18.452.648.189.968 C18.452.648.663.970 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D015211 | ||||||
| Scope note: | An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. |
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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: |
Abnormalities, Multiple (1968-1988) Brain Diseases (1966-1988) Kidney Diseases (1966-1988) Liver Diseases (1966-1988) |
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| Public MeSH Note: | 1989 |
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| History Note: | 1989 |
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| DeCS ID: | 23866 | ||||||
| Unique ID: | D015211 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1989/01/01 | ||||||
| Date of Entry: | 1988/05/04 | ||||||
| Revision Date: | 2015/06/08 |
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Zellweger Syndrome
- Preferred
Zellweger-Like Syndrome
- Related but not broader or narrower
Zellweger Spectrum
- Broader
| Concept UI |
M0023373 |
| Scope note | An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. |
| Preferred term | Zellweger Syndrome |
| Entry term(s) |
Cerebro Hepato Renal Syndrome Cerebro-Hepato-Renal Syndrome Cerebrohepatorenal Syndrome Zellweger Disease Zellweger's Syndrome |
| Concept UI |
M0336337 |
| Preferred term | Zellweger-Like Syndrome |
| Entry term(s) |
Zellweger Like Syndrome |
| Concept UI |
M0583999 |
| Preferred term | Zellweger Spectrum |
| Entry term(s) |
PBD, ZSS Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Spectrum, Zellweger Zellweger Syndrome Spectrum |
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