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25362006: Phytanic acid storage disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
42523018 Phytanic acid storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
42524012 Refsum's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
42525013 Heredopathia atactica polyneuritiformis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Danish translated concepts reference set (foundation metadata concept)
42526014 Refsum syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
42527017 Heredoataxia hemeralopica polyneuritiformis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
42528010 Refsum-Thiébaut disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
42529019 Hereditary sensory-motor neuropathy, type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
42530012 Refsum-Thiebaut disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
196435018 Hereditary motor and sensory neuropathy, type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
196436017 HSMN IV en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
755671017 Phytanic acid storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1224865018 Hereditary motor and sensory neuropathy type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
1224866017 Heredoataxic atactica polyneuritiformis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
1224867014 Heredoataxic hemeralopica polyneuritiformis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
2027831000005116 Refsums sygdom da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
HSMN IV Is a Hereditary motor and sensory neuropathy false Inferred relationship Some
HSMN IV Is a Congenital anomaly of head (disorder) false Inferred relationship Some
HSMN IV Is a Disorder of lipid storage and metabolism false Inferred relationship Some
HSMN IV Is a Disorder of fatty acid metabolism (disorder) true Inferred relationship Some
HSMN IV Is a Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Some
HSMN IV Is a Cutaneous syndrome with ichthyosis false Inferred relationship Some
HSMN IV Is a Hereditary retinal dystrophy false Inferred relationship Some
HSMN IV Is a Storage disease true Inferred relationship Some
HSMN IV Finding site Nerve structure false Inferred relationship Some
HSMN IV Finding site Peripheral nervous system structure true Inferred relationship Some 4
HSMN IV Finding site Retinal structure false Inferred relationship Some
HSMN IV Finding site Structure of skin region false Inferred relationship Some
HSMN IV Occurrence Congenital true Inferred relationship Some 5
HSMN IV Is a Neuropathy false Inferred relationship Some
HSMN IV Is a Congenital anomaly of eye false Inferred relationship Some
HSMN IV Associated morphology kongenit anomali false Inferred relationship Some 1
HSMN IV Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Some
HSMN IV Is a Site-specific disorder of skin false Inferred relationship Some
HSMN IV Is a Neuropathy (disorder) false Inferred relationship Some
HSMN IV Finding site Skin structure false Inferred relationship Some 1
HSMN IV Is a Leucodystrophy true Inferred relationship Some
HSMN IV Is a Retinitis pigmentosa true Inferred relationship Some
HSMN IV Associated morphology Myelin sheath alteration false Inferred relationship Some 1
HSMN IV Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
HSMN IV Associated morphology Dystrophy false Inferred relationship Some 1
HSMN IV Associated morphology Myelin sheath alteration true Inferred relationship Some 1
HSMN IV Associated morphology Dystrophy false Inferred relationship Some 1
HSMN IV Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
HSMN IV Associated morphology Dystrophy true Inferred relationship Some 2
HSMN IV Finding site Retinal structure true Inferred relationship Some 2
HSMN IV Finding site Myelinated nerve fiber structure true Inferred relationship Some 1
HSMN IV Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 3
HSMN IV Associated morphology Dystrophy true Inferred relationship Some 3
HSMN IV Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Dilated cardiomyopathy due to phytanic acid storage disease Is a False HSMN IV Inferred relationship Some
Dilated cardiomyopathy due to phytanic acid storage disease Associated with False HSMN IV Inferred relationship Some 2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Due to True HSMN IV Inferred relationship Some 2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Is a True HSMN IV Inferred relationship Some
Autonomic neuropathy due to Refsum Disease Due to True HSMN IV Inferred relationship Some 2
Dilated cardiomyopathy due to phytanic acid storage disease Due to True HSMN IV Inferred relationship Some 2

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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