Fryns syndrome 702432006
SNOMED CT code
| SNOMED code | 702432006 |
|---|---|
| name | Fryns syndrome |
| status | active |
| date introduced | 2014-07-31 |
| fully specified name(s) | Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| attributes - group4 | |
| Finding site | Lung structure 39607008 |
| Associated morphology | Hypoplasia 55199003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group5 | |
| Finding site | Limb structure 66019005 |
| Associated morphology | Hypoplasia 55199003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Diaphragm structure 5798000 |
| Associated morphology | Hernial opening 414402003 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Associated morphology | Hernia 414403008 |
| Finding site | Intra-abdominopelvic structure 818986006 |
| Occurrence | Congenital 255399007 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Diaphragmatic finding 106062002 Disorder of diaphragm 48475001 Diaphragmatic hernia 39839004 Congenital diaphragmatic hernia 17190001 Fryns syndrome 702432006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Fryns syndrome 702432006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Fryns syndrome 702432006 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Fryns syndrome 702432006 SNOMED CT Concept 138875005 Clinical finding 404684003 Respiratory finding 106048009 Lower respiratory tract finding 301226008 Congenital anomaly of lower respiratory system 123654008 Congenital anomaly of lung 47147007 Congenital hypoplasia of lung 80825009 Fryns syndrome 702432006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Fryns syndrome 702432006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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