Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009
SNOMED CT code
| SNOMED code | 719378009 | ||
|---|---|---|---|
| name | Microcephalus with brachydactyly and kyphoscoliosis syndrome | ||
| status | active | ||
| date introduced | 2017-01-31 | ||
| fully specified name(s) | Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) | ||
| synonyms |
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| attributes - group2 | |||
| Occurrence | Congenital 255399007 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Congenital smallness 41086002 | ||
| Finding site | Brain structure 12738006 | ||
| attributes - group1 | |||
| Occurrence | Congenital 255399007 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Abnormally short growth 11182007 | ||
| Finding site | Entire digit 361367007 | ||
| attributes - group3 | |||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Finding site | Face structure 89545001 | ||
| attributes - group4 | |||
| Associated morphology | Lateral abnormal curvature 31739005 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| Finding site | Bone structure of spine 51282000 | ||
| attributes - group5 | |||
| Occurrence | Congenital 255399007 | ||
| Finding site | Musculoskeletal structure of spine 289959001 | ||
| Associated morphology | Lateral abnormal curvature 31739005 | ||
| 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 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of head 118934005 Disorder of brain 81308009 Microcephalus 1829003 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Congenital deformity of spine 205043005 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical 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 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Clinical history and observation findings 250171008 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Deformity of bone 271084006 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Musculoskeletal finding 106028002 Bone finding 118953000 Finding of vertebra 298385001 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital kyphoscoliosis 405772002 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Brachydactyly 43476002 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of head 118934005 Disorder of brain 81308009 Congenital anomaly of brain 57148006 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 | ||
| ancestors | sorted most to least specific
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| cpt crosswalks |
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