Absent thumb with short stature and immunodeficiency syndrome 719685004
SNOMED CT code
| SNOMED code | 719685004 | ||
|---|---|---|---|
| name | Absent thumb with short stature and immunodeficiency syndrome | ||
| status | active | ||
| date introduced | 2017-01-31 | ||
| fully specified name(s) | Absent thumb with short stature and immunodeficiency syndrome (disorder) | ||
| synonyms | Absent thumb with short stature and immunodeficiency syndrome | ||
| attributes - group2 | |||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Finding site | Skeletal system structure 113192009 | ||
| attributes - group1 | |||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| Finding site | Entire thumb 302540006 | ||
| Associated morphology | Aplasia 45486003 | ||
| attributes - group3 | |||
| Pathological process | Abnormal immune process 769247005 | ||
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Clinical history and observation findings 250171008 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Congenital malformation syndromes associated with short stature 205808005 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Finding of body region 301857004 Finding of limb structure 302293008 Finding of upper limb 116307009 Finding of hand region 116311003 Absence of hand 249750006 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital immunodeficiency disease 36138009 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Hereditary disorder of immune system 363138005 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of extremity 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Congenital malformation of thumb 394910004 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 Absent thumb with short stature and immunodeficiency syndrome 719685004 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 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital anomaly of musculoskeletal system 73573004 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Absent thumb with short stature and immunodeficiency syndrome 719685004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Absent thumb with short stature and immunodeficiency syndrome 719685004 | ||
| ancestors | sorted most to least specific
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| cpt crosswalks |
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