Pelizaeus-Merzbacher disease in female carrier 1003881009

SNOMED CT code

SNOMED code

1003881009

name

Pelizaeus-Merzbacher disease in female carrier

status

active

date introduced

2021-01-31

fully specified name(s)

Pelizaeus-Merzbacher disease in female carrier (disorder)

synonyms

Pelizaeus-Merzbacher disease in female carrier

attributes - group1

Finding site

Myelinated nerve fiber structure 54115001

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Myelin sheath alteration 125495003

attributes - group2

Associated morphology

Dystrophy 4720007

Finding site

White matter structure of brain and spinal cord 389080008

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

parents

X-linked recessive hereditary disease 1162976004
Congenital anomaly of central nervous system 128124001
Pelizaeus-Merzbacher disease 64855000
Congenital degeneration of nervous system 95477007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Sex-linked hereditary disorder 82852009
X-linked hereditary disease 128430005
X-linked recessive hereditary disease 1162976004
Pelizaeus-Merzbacher disease in female carrier 1003881009

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Disorder of the central nervous system 23853001
Congenital anomaly of central nervous system 128124001
Pelizaeus-Merzbacher disease in female carrier 1003881009

SNOMED CT Concept 138875005
Clinical finding 404684003
Neurological lesion 299735001
Leukodystrophy 192781003
Pelizaeus-Merzbacher disease 64855000
Pelizaeus-Merzbacher disease in female carrier 1003881009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Degenerative disorder 362975008
Congenital degeneration of nervous system 95477007
Pelizaeus-Merzbacher disease in female carrier 1003881009

ancestors

sorted most to least specific

X-linked recessive hereditary disease 1162976004
Congenital anomaly of central nervous system 128124001
Pelizaeus-Merzbacher disease 64855000
Congenital degeneration of nervous system 95477007
X-linked hereditary disease 128430005
Hereditary degenerative disease of central nervous system 106018006
Congenital anomaly of nervous system 88425004
Leukodystrophy 192781003
Developmental hereditary disorder 363070008
Sex-linked hereditary disorder 82852009
Hereditary disorder of nervous system 363235000
Neurological lesion 299735001
Degenerative disease of the central nervous system 80690008
Congenital malformation 276654001
Neuropathy 386033004
Disorder of the central nervous system 23853001
Degenerative disorder 362975008
Hereditary disorder by system 363137000
Developmental disorder 5294002
Congenital disease 66091009
Hereditary disease 32895009
Disorder of nervous system 118940003
Central nervous system finding 246556002
Genetic disease 782964007
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Sex-linked hereditary disorder 82852009

X-linked hereditary disease 128430005

X-linked recessive hereditary disease 1162976004

Pelizaeus-Merzbacher disease in female carrier 1003881009

SNOMED CT code