Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007
SNOMED CT code
SNOMED code | 1172689007 |
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name | Prenatal-onset spinal muscular atrophy with congenital bone fractures |
status | active |
date introduced | 2021-09-30 |
fully specified name(s) | Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) |
synonyms | Prenatal-onset spinal muscular atrophy with congenital bone fractures |
attributes - group4 | |
Interprets | Range of joint movement 364564000 |
Has interpretation | Decreased 1250004 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
Finding site | Structure of joint region 785818007 |
Associated morphology | Contracture 57048009 |
Pathological process | Pathological developmental process 308490002 |
attributes - group2 | |
Occurrence | Congenital 255399007 |
Finding site | Structure of long bone 113193004 |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Fracture of multiple bones 771485007 |
attributes - group3 | |
Occurrence | Congenital 255399007 |
Finding site | Nervous system structure 25087005 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Traumatic or non-traumatic injury 417163006 Injury of nervous system 128239009 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Arthrogryposis 111246005 Arthrogryposis multiplex congenita 205402004 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Inherited arthrogryposis 28204005 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 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 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Motor neuron disease 37340000 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Traumatic or non-traumatic injury 417163006 Injury of musculoskeletal system 105606008 Bone injury 284003005 Fracture of bone 125605004 Fracture of multiple bones 788192009 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007 |
ancestors | sorted most to least specific
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cpt crosswalks |
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