Pyridoxal 5-phosphate dependent epilepsy 724576005

SNOMED CT code

SNOMED code

724576005

name

Pyridoxal 5-phosphate dependent epilepsy

status

active

date introduced

2017-07-31

fully specified name(s)

Pyridoxal 5-phosphate dependent epilepsy (disorder)

synonyms

Pyridoxal 5-phosphate dependent epilepsy
Pyridoxal phosphate-responsive seizures

attributes - group3

Occurrence

Congenital 255399007

Finding site

Endocrine structure 113331007

attributes - group4

Occurrence

Congenital 255399007

Finding site

Cerebrum 83678007

parents

Disorder of neurometabolic regulation 16279005
Hereditary disorder of endocrine system 363104002
Hereditary disorder of nervous system 363235000
Congenital disease 66091009
Epilepsy 84757009
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of neurometabolic regulation 16279005
Pyridoxal 5-phosphate dependent epilepsy 724576005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of endocrine system 362969004
Hereditary disorder of endocrine system 363104002
Pyridoxal 5-phosphate dependent epilepsy 724576005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Hereditary disorder of nervous system 363235000
Pyridoxal 5-phosphate dependent epilepsy 724576005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Pyridoxal 5-phosphate dependent epilepsy 724576005

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Finding of brain 299718000
Seizure 91175000
Seizure disorder 128613002
Epilepsy 84757009
Pyridoxal 5-phosphate dependent epilepsy 724576005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Pyridoxal 5-phosphate dependent epilepsy 724576005

ancestors

sorted most to least specific

Disorder of neurometabolic regulation 16279005
Hereditary disorder of endocrine system 363104002
Hereditary disorder of nervous system 363235000
Congenital disease 66091009
Epilepsy 84757009
Autosomal recessive hereditary disorder 85995004
Metabolic disease 75934005
Seizure disorder 128613002
Autosomal hereditary disorder 1899006
Functional disease of the CNS with neuroendocrine disturbance 81682002
Hereditary disorder by system 363137000
Disorder of endocrine system 362969004
Disorder of brain 81308009
Hereditary disease 32895009
Seizure 91175000
Disorder of head 118934005
Genetic disease 782964007
Disorder of the central nervous system 23853001
Finding of brain 299718000
Seizure related finding 313287004
Disorder of nervous system 118940003
Head finding 406122000
Central nervous system finding 246556002
Neurological finding 102957003
Disorder of body system 362965005
Finding of head and neck region 118254002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Metabolic disease 75934005

Disorder of neurometabolic regulation 16279005

Pyridoxal 5-phosphate dependent epilepsy 724576005

SNOMED CT code