Autosomal recessive facio-digito-genital syndrome 725434009
SNOMED CT code
| SNOMED code | 725434009 | ||
|---|---|---|---|
| name | Autosomal recessive facio-digito-genital syndrome | ||
| status | active | ||
| date introduced | 2017-07-31 | ||
| fully specified name(s) | Autosomal recessive faciodigitogenital syndrome (disorder) | ||
| synonyms |
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| attributes - group1 | |||
| Occurrence | Congenital 255399007 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Finding site | Face structure 89545001 | ||
| attributes - group2 | |||
| Occurrence | Congenital 255399007 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Finding site | Digit structure 82680008 | ||
| attributes - group3 | |||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Occurrence | Congenital 255399007 | ||
| Finding site | Urogenital structure 21514008 | ||
| parents | |||
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of extremity 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Autosomal recessive facio-digito-genital syndrome 725434009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Congenital abnormality of lower limb and pelvic girdle 253937004 Congenital anomaly of lower trunk 363030001 Genitourinary congenital anomalies 287085006 Autosomal recessive facio-digito-genital syndrome 725434009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Hereditary disorder by system 363137000 Autosomal recessive facio-digito-genital syndrome 725434009 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 Autosomal recessive facio-digito-genital syndrome 725434009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive facio-digito-genital syndrome 725434009 | ||
| ancestors | sorted most to least specific
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| cpt crosswalks |
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