Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002
SNOMED CT code
SNOMED code | 765325002 |
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name | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
status | active |
date introduced | 2018-07-31 |
fully specified name(s) | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
synonyms |
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attributes - group1 | |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Finding site | Peripheral nerve structure 84782009 |
Associated morphology | Demyelination 32693004 |
attributes - group5 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Hypopigmentation 89031001 |
Occurrence | Congenital 255399007 |
Finding site | Skin structure 39937001 |
attributes - group4 | |
Interprets | Hearing 47078008 |
Has interpretation | Decreased 1250004 |
attributes - group6 | |
Occurrence | Congenital 255399007 |
Finding site | Auditory structure 91159003 |
attributes - group7 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group8 | |
Interprets | Adaptation behavior 406208005 |
Has interpretation | Impaired 260379002 |
attributes - group2 | |
Associated morphology | Myelin sheath alteration 125495003 |
Finding site | Myelinated nerve fiber structure 54115001 |
attributes - group3 | |
Finding site | White matter structure of brain and spinal cord 389080008 |
Associated morphology | Dystrophy 4720007 |
parents |
|
hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Peripheral demyelinating neuropathy 23414001 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 General finding of soft tissue 248402002 Disorder of soft tissue 19660004 Peripheral nerve disease 302226006 Congenital anomaly of peripheral nerve 23880008 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 Waardenburg's syndrome 47434006 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital sensorineural hearing loss 700453005 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Congenital degeneration of nervous system 95477007 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002 |
ancestors | sorted most to least specific
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cpt crosswalks |
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