Koolen De Vries syndrome 717338006
SNOMED CT code
SNOMED code | 717338006 |
---|---|
name | Koolen De Vries syndrome |
status | active |
date introduced | 2016-07-31 |
fully specified name(s) | Koolen De Vries syndrome (disorder) |
synonyms | Koolen De Vries syndrome |
attributes - group1 | |
Pathological process | Pathological developmental process 308490002 |
Finding site | Chromosome pair 17 45201007 |
Associated morphology | Cellular AND/OR subcellular abnormality 107673000 |
Occurrence | Congenital 255399007 |
attributes - group2 | |
Associated morphology | Morphologically abnormal structure 49755003 |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Finding site | Face structure 89545001 |
parents | |
hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Koolen De Vries syndrome 717338006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Koolen De Vries syndrome 717338006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 17 32107005 Koolen De Vries syndrome 717338006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Koolen De Vries syndrome 717338006 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 Koolen De Vries syndrome 717338006 |
ancestors | sorted most to least specific
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cpt crosswalks |
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