Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007
SNOMED CT code
| SNOMED code | 789777007 |
|---|---|
| name | Short-limb skeletal dysplasia with severe combined immunodeficiency |
| status | active |
| date introduced | 2020-01-31 |
| fully specified name(s) | Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) |
| synonyms |
|
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Immune system structure 116003000 |
| Pathological process | Abnormal immune process 769247005 |
| attributes - group1 | |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Bone structure 272673000 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Structure of metaphysis 33251002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Skeletal dysplasia 105986008 Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of immune structure 414030009 Severe combined immunodeficiency with low T- and B-cell numbers 190997006 Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital immunodeficiency disease 36138009 Severe combined immunodeficiency disease 31323000 Autosomal recessive SCID (severe combined immunodeficiency disease) 362993009 Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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