Hirschsprung disease with deafness and polydactyly syndrome 721221000
SNOMED CT code
| SNOMED code | 721221000 |
|---|---|
| name | Hirschsprung disease with deafness and polydactyly syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Hirschsprung disease with deafness and polydactyly syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Colon structure 71854001 |
| Associated morphology | Hypertrophy 56246009 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Supernumerary structure 91431006 |
| Finding site | Digit structure 82680008 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Colon structure 71854001 |
| Associated morphology | Dilatation 25322007 |
| attributes - group5 | |
| Finding site | Auditory structure 91159003 |
| Occurrence | Congenital 255399007 |
| attributes - group6 | |
| Interprets | Hearing 47078008 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Autonomic nerve structure 53520000 |
| attributes - group7 | |
| Finding site | Structure of peripheral part of autonomic nervous system 429921001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Disorder of the peripheral nervous system 42658009 Congenital anomaly of the peripheral nervous system 22133005 Hirschsprung's disease 204739008 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Bowel finding 249562008 Finding of large intestine 118436003 Disorder of large intestine 119523007 Disorder of colon 128524007 Congenital dilatation of colon 24291004 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Disorder of digestive system 53619000 Digestive system hereditary disorder 363080007 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Polydactyly 367506006 Hirschsprung disease with deafness and polydactyly syndrome 721221000 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 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Disorder of autonomic nervous system 15241006 Inherited autonomic nervous system disorder 722997000 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Hirschsprung disease with deafness and polydactyly syndrome 721221000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Hirschsprung disease with deafness and polydactyly syndrome 721221000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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