Male emopamil-binding protein disorder with neurological defect 782739000
SNOMED CT code
| SNOMED code | 782739000 |
|---|---|
| name | Male emopamil-binding protein disorder with neurological defect |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Male emopamil-binding protein disorder with neurological defect (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Nervous system structure 25087005 |
| attributes - group2 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Skin structure 39937001 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 Male emopamil-binding protein disorder with neurological defect 782739000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Male emopamil-binding protein disorder with neurological defect 782739000 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Congenital anomaly of integument 38164009 Congenital anomaly of skin 199879009 Male emopamil-binding protein disorder with neurological defect 782739000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of lipoprotein AND/OR lipid metabolism 48286001 Disorder of lipid metabolism 267431006 Male emopamil-binding protein disorder with neurological defect 782739000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Male emopamil-binding protein disorder with neurological defect 782739000 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Male emopamil-binding protein disorder with neurological defect 782739000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Male emopamil-binding protein disorder with neurological defect 782739000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Congenital anomaly of nervous system 88425004 Male emopamil-binding protein disorder with neurological defect 782739000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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