refsum disease, infantile

Preferred Label : refsum disease, infantile;

MeSH definition : 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.;

MeSH synonym : infantile refsum's disease; refsums disease, infantile; infantile refsum disease; infantile refsums disease; disease, infantile refsum; infantile form of phytanic acid storage disease; refsum's disease, infantile; disease, infantile refsum's; infantile phytanic acid storage disease; refsum disease, infantile form;

MeSH annotation : do not confuse with REFSUM DISEASE;

Details

Origin ID

D052919;

UMLS CUI

C0282527;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Acute neuronopathic Gaucher's disease (disorder) [SNOMED CT concept]
- Refsum's disease [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Infantile Refsum Disease [NCIt concept]
- Infantile Refsum disease [ICD-11 More detail]
- Infantile Refsum disease [ORDO Disease]
- Infantile Refsum's disease (disorder) [SNOMED CT concept]
- Peroxisome biogenesis disorder 1b [OMIM Phenotype]
- infantile Refsum disease [DO Concept]
- infantile Refsum disease [Disease (Nov.)]
DO Cross reference
- infantile Refsum disease [DO Concept]
Has phenotype(s) (HPO)
- Minor facial dysmorphism [HPO term]
- Onset in utero [HPO term]
Manual NTBT mappings (CISMeF)
- Autosomal recessive metabolic cerebellar ataxia [ORDO Disease]
- Developmental anomaly of metabolic origin [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Peroxisome biogenesis disorder [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
Ne pas confondre avec
- refsum disease [MeSH Descriptor]
ORDO relation(s)
- Infantile Refsum disease [ORDO Disease]
Record concept(s)
- refsum disease, infantile [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile Refsum Disease [NCIt concept]
- Infantile Refsum disease [ORDO Disease]
- Infantile Refsum disease [ICD-11 More detail]
- Infantile Refsum's disease (disorder) [SNOMED CT concept]
- Peroxisome biogenesis disorder 1b [OMIM Phenotype]
- infantile Refsum disease [DO Concept]
- infantile Refsum disease [Disease (Nov.)]

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