Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002
SNOMED CT code
| SNOMED code | 1255322002 |
|---|---|
| name | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
| status | active |
| date introduced | 2022-10-31 |
| fully specified name(s) | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome (disorder) |
| synonyms |
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| attributes - group7 | |
| Interprets | Muscle tone 6918002 |
| attributes - group6 | |
| Finding site | Skeletal muscle structure 127954009 |
| attributes - group3 | |
| Interprets | Range of joint movement 364564000 |
| Has interpretation | Decreased 1250004 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Joint structure of limb 312683002 |
| Associated morphology | Contracture 57048009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Contracture 57048009 |
| Pathological process | Pathological developmental process 308490002 |
| 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 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 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 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Arthrogryposis 111246005 Distal arthrogryposis syndrome 24269006 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Joint deformity 250087009 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Arthropathy 399269003 Lesion of joint 298149009 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Poor muscle tone 398152000 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Congenital deformity of face 398206004 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Deformity of limb 445144002 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Lesion of face 767811005 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Arthropathy 399269003 Congenital anomaly of joint 95463009 Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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