C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 1172595004
SNOMED CT code
SNOMED code | 1172595004 |
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name | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy |
status | active |
date introduced | 2021-09-30 |
fully specified name(s) | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
synonyms |
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attributes - group1 | |
Finding site | Myelinated nerve fiber structure 54115001 |
Associated morphology | Myelin sheath alteration 125495003 |
attributes - group2 | |
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 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 1172595004 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 1172595004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 1172595004 |
ancestors | sorted most to least specific
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cpt crosswalks |
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