Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004
SNOMED CT code
| SNOMED code | 1197059004 |
|---|---|
| name | Congenital ichthyosis, microcephalus, tetraplegia syndrome |
| status | active |
| date introduced | 2022-02-28 |
| fully specified name(s) | Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
| synonyms |
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| attributes - group9 | |
| Interprets | Movement 255324009 |
| attributes - group5 | |
| Finding site | Limb structure 66019005 |
| attributes - group6 | |
| Finding site | Skeletal and/or smooth muscle structure 71616004 |
| attributes - group7 | |
| Finding site | Extrapyramidal system structure 76375004 |
| attributes - group8 | |
| Finding site | Auditory structure 91159003 |
| attributes - group2 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Decreased 1250004 |
| attributes - group3 | |
| Interprets | Keratinization 44138005 |
| Has interpretation | Abnormal 263654008 |
| attributes - group4 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Entire skin 181469002 |
| Associated morphology | Hyperkeratosis 26996000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group10 | |
| Interprets | Movement observable 363847004 |
| Has interpretation | Absent 2667000 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Skin finding 106076001 Rough skin 816995008 Congenital ichthyosis of skin 13059002 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological finding 102957003 Myoclonus 17450006 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Spastic tetraplegia 192965001 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of movement 298325004 Movement disorder 60342002 Extrapyramidal disease 76349003 Athetosis 44913001 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Sensorineural hearing loss 60700002 Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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