Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001
SNOMED CT code
| SNOMED code | 1217225001 |
|---|---|
| name | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
| status | active |
| date introduced | 2022-04-30 |
| fully specified name(s) | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder) |
| synonyms | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure of cervical vertebra 84667006 |
| Associated morphology | Congenital abnormal fusion 37764001 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Klippel-Feil sequence 5601008 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001 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 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Congenital anomaly of skeletal muscle 89886004 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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