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 | Head structure 69536005 |
| 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 | Musculoskeletal structure of spine 289959001 |
| attributes - group5 | |
| Interprets | Height / growth measure 271603002 |
| Has interpretation | Below reference range 281300000 |
| attributes - group6 | |
| Interprets | Birth head circumference 169876006 |
| Has interpretation | Below reference range 281300000 |
| attributes - group8 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Finding site | Musculoskeletal structure of spine 289959001 |
| Associated morphology | Anteroposterior abnormal curvature 61051007 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group9 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| parents |
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| 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 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 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 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 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 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 Deformity 417893002 Congenital deformity 276655000 Congenital kyphosis 71311003 Congenital kyphoscoliosis 405772002 Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Deformity of limb 445144002 Longitudinal deficiency of part of limb 716638009 Brachydactyly 43476002 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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