Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
SNOMED CT code
| SNOMED code | 720639008 | ||
|---|---|---|---|
| name | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | ||
| status | active | ||
| date introduced | 2017-01-31 | ||
| fully specified name(s) | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) | ||
| synonyms |
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| attributes - group2 | |||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Finding site | Heart structure 80891009 | ||
| attributes - group4 | |||
| Occurrence | Congenital 255399007 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Finding site | Face structure 89545001 | ||
| attributes - group5 | |||
| Finding site | Skin structure 39937001 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Occurrence | Congenital 255399007 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| attributes - group3 | |||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| Finding site | Ectoderm structure 63206006 | ||
| Associated morphology | Dysplasia 25723000 | ||
| attributes - group1 | |||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Developmental failure of fusion 371520008 | ||
| Occurrence | Congenital 255399007 | ||
| Finding site | Eye structure 81745001 | ||
| attributes - group6 | |||
| Finding site | Auditory structure 91159003 | ||
| attributes - group7 | |||
| Interprets | Hearing 47078008 | ||
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Mental disorder 74732009 Developmental mental disorder 129104009 Intellectual disability 110359009 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Structural disorder of heart 128599005 Congenital heart disease 13213009 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Clinical history and observation findings 250171008 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital ectodermal defect 254154003 Ectodermal dysplasia 8654005 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Eye / vision finding 118235002 Globe finding 246915008 Lesion of eye structure 301905003 Coloboma of eye 93390002 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 | ||
| ancestors | sorted most to least specific
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