CEDNIK syndrome 722385008
SNOMED CT code
| SNOMED code | 722385008 |
|---|---|
| name | CEDNIK syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Cerebrum 83678007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Hyperkeratosis 26996000 |
| Finding site | Entire skin 181469002 |
| attributes - group3 | |
| Associated morphology | Hyperkeratosis 26996000 |
| Finding site | Entire skin of palmar area of hand 181544004 |
| attributes - group5 | |
| Finding site | Entire skin of sole of foot 181566006 |
| Associated morphology | Hyperkeratosis 26996000 |
| attributes - group6 | |
| Finding site | Nervous system structure 25087005 |
| Associated morphology | Neoplasm 108369006 |
| Occurrence | Congenital 255399007 |
| attributes - group7 | |
| Finding site | Skin structure 39937001 |
| Associated morphology | Neoplasm 108369006 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Has interpretation | Abnormal 263654008 |
| Interprets | Keratinization 44138005 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 CEDNIK syndrome 722385008 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Hereditary palmoplantar keratoderma 239066003 Hereditary diffuse palmoplantar keratoderma 400123002 CEDNIK syndrome 722385008 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Skin finding 106076001 Rough skin 816995008 Congenital ichthyosis of skin 13059002 Autosomal recessive ichthyosis 402772005 CEDNIK syndrome 722385008 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Congenital anomaly of brain 57148006 Congenital anomaly of cerebrum 702628006 CEDNIK syndrome 722385008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Neurocutaneous syndrome 78572006 CEDNIK syndrome 722385008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Finding of hand region 116311003 Rough skin of hands 829993001 CEDNIK syndrome 722385008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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