Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006
SNOMED CT code
| SNOMED code | 770625006 |
|---|---|
| name | Combined immunodeficiency with faciooculoskeletal anomalies syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Atrophy 13331008 |
| Finding site | Optic nerve structure 18234004 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Bone structure 272673000 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| attributes - group4 | |
| Pathological process | Abnormal immune process 769247005 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Inherited optic neuropathy 312942003 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital immunodeficiency disease 36138009 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Hereditary disorder of immune system 363138005 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Immunodeficiency disorder 234532001 Primary immune deficiency disorder 58606001 Combined immunodeficiency disease 442459007 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 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 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital atrophy of optic nerve 722990003 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Congenital degeneration of nervous system 95477007 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of optic nerve 95502000 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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