| Descriptor English: | Refsum Disease, Infantile | ||||||
| Descriptor Spanish: |
Enfermedad de Refsum Infantil
| ||||||
| Descriptor Portuguese: | Doença de Refsum Infantil | ||||||
| Descriptor French: | Maladie de Refsum infantile | ||||||
| Entry term(s): |
Disease, Infantile Refsum Disease, Infantile Refsum's Infantile Form of Phytanic Acid Storage Disease Infantile Phytanic Acid Storage Disease Infantile Refsum Disease Infantile Refsum's Disease Infantile Refsums Disease Refsum Disease, Infantile Form Refsum's Disease, Infantile Refsums Disease, Infantile |
||||||
| Tree number(s): |
C10.228.140.163.100.844 C16.320.565.189.844 C16.320.565.663.865 C18.452.132.100.844 C18.452.648.189.844 C18.452.648.663.865 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D052919 | ||||||
| Scope note: | An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. |
||||||
| Annotation: | do not confuse with REFSUM DISEASE |
||||||
| 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 |
||||||
| Previous Indexing: |
Peroxisomal Disorders (1998-2006) Refsum Disease (1986-2006) |
||||||
| Public MeSH Note: | 2007; see PEROXISOMAL DISORDERS 1996-2006 |
||||||
| History Note: | 2007; use PEROXISOMAL DISORDERS 1996-2006 |
||||||
| Entry Version: | REFSUM DIS INFANTILE |
||||||
| DeCS ID: | 52110 | ||||||
| Unique ID: | D052919 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2007/01/01 | ||||||
| Date of Entry: | 2006/07/05 | ||||||
| Revision Date: | 2015/06/08 |
|
|
Refsum Disease, Infantile
- Preferred
| Concept UI |
M0028263 |
| Scope note | An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. |
| Preferred term | Refsum Disease, Infantile |
| Entry term(s) |
Disease, Infantile Refsum Disease, Infantile Refsum's Infantile Form of Phytanic Acid Storage Disease Infantile Phytanic Acid Storage Disease Infantile Refsum Disease Infantile Refsum's Disease Infantile Refsums Disease Refsum Disease, Infantile Form Refsum's Disease, Infantile Refsums Disease, Infantile |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
