Phytanic acid storage disease

Phytanic acid storage disease (disorder)

active

Code	`25362006`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

HSMN IV
Hereditary motor and sensory neuropathy type IV
Hereditary motor and sensory neuropathy, type IV
Hereditary sensory-motor neuropathy, type IV
Heredoataxia hemeralopica polyneuritiformis
Heredoataxic atactica polyneuritiformis
Heredoataxic hemeralopica polyneuritiformis
Heredopathia atactica polyneuritiformis
Phytanic acid storage disease
Refsum syndrome
Refsum's disease
Refsum-Thiebaut disease
Refsum-Thiébaut disease

Parents (7)

39929009Disorder of fatty acid metabolism disorder
106018006Hereditary degenerative disease of central nervous system disorder
398100001Hereditary motor and sensory neuropathy disorder
128190004Inherited metabolic disorder of nervous system disorder
192781003Leucodystrophy disorder
28835009Retinitis pigmentosa disorder
34420000Storage disease disorder

Children (1)

724769002Ataxia co-occurrent and due to phytanic acid storage disease disorder