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 |
| attributes - group8 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group9 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 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 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 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 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 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 SNOMED CT Concept 138875005 Clinical finding 404684003 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 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 Disease 64572001 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 Disorder of embryonic structure 609521009 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 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of eye 19416009 Coloboma of eye 93390002 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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