Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006
SNOMED CT code
| SNOMED code | 724067006 |
|---|---|
| name | Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) |
| synonyms |
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| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Endocrine structure 113331007 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Entire cerebellum 180924008 |
| Associated morphology | Agenesis 782173000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Face structure 89545001 |
| attributes - group4 | |
| Occurrence | Infancy 3658006 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Cerebellar disorder 223176004 Dysgenesis of the cerebellum 253171007 Aplasia of cerebellum 204049003 Agenesis of cerebellum 253172000 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Diabetes mellitus 73211009 Diabetes mellitus due to genetic defect in beta cell function 609568004 Neonatal diabetes mellitus 49817004 Permanent neonatal diabetes mellitus 609565001 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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