Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002
SNOMED CT code
| SNOMED code | 1237625002 |
|---|---|
| name | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) |
| synonyms |
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| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group5 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group1 | |
| Finding site | Cerebellar structure 113305005 |
| Associated morphology | Atrophy 13331008 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Truncal ataxia 250067008 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 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 Hereditary cerebellar degeneration 37650008 Hereditary cerebellar atrophy 431641000124107 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Cerebellar ataxia 85102008 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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