NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
SNOMED CT code
| SNOMED code | 1217379007 |
|---|---|
| name | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy |
| status | active |
| date introduced | 2022-04-30 |
| fully specified name(s) | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
| synonyms |
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| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group5 | |
| Finding site | Visual structure 49549006 |
| attributes - group6 | |
| Finding site | Limb structure 66019005 |
| attributes - group7 | |
| Finding site | Auditory structure 91159003 |
| attributes - group8 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Decreased 1250004 |
| 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 |
| attributes - group9 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group10 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group11 | |
| Has interpretation | Absent 2667000 |
| Interprets | Movement observable 363847004 |
| attributes - group12 | |
| Interprets | Movement 255324009 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Spastic tetraplegia 192965001 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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