Fibular aplasia and complex brachydactyly 715474004

SNOMED CT code

SNOMED code

715474004

name

Fibular aplasia and complex brachydactyly

status

active

date introduced

2016-07-31

fully specified name(s)

Aplasia of fibula co-occurrent with complex brachydactyly (disorder)

synonyms

Aplasia of fibula co-occurrent with complex brachydactyly
Fibular aplasia and complex brachydactyly
Du Pan syndrome

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Aplasia 45486003

Occurrence

Congenital 255399007

Finding site

Bone structure of fibula 87342007

parents

Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Multiple malformation syndrome with limb defect as major feature 41443008
Congenital absence of fibula 74245009
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Fibular aplasia and complex brachydactyly 715474004

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Fibular aplasia and complex brachydactyly 715474004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome with limb defect as major feature 41443008
Fibular aplasia and complex brachydactyly 715474004

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Bone finding 118953000
Bone absent 298350001
Congenital absence of skeletal bone 127328006
Congenital absence of fibula 74245009
Fibular aplasia and complex brachydactyly 715474004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Fibular aplasia and complex brachydactyly 715474004

ancestors

sorted most to least specific

Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Multiple malformation syndrome with limb defect as major feature 41443008
Congenital absence of fibula 74245009
Autosomal recessive hereditary disorder 85995004
Hereditary disorder by system 363137000
Multiple system malformation syndrome 82354003
Congenital anomaly of fibula 123562008
Autosomal hereditary disorder 1899006
Congenital absence of skeletal bone 127328006
Absence of fibula 275347009
Partial congenital absence of limb 60220000
Hereditary disease 32895009
Congenital malformation syndrome 400038003
Disorder of lower leg 128137003
Bone absent 298350001
Congenital anomaly of skeletal bone 8447006
Congenital anomaly of lower limb 84773003
Finding of bone of lower limb 879910002
Absence of lower limb 723722000
Genetic disease 782964007
Disorder of free lower limb 700012005
Congenital anomaly of limb 60475009
Disorder of bone development 371521007
Congenital anomaly of musculoskeletal system 73573004
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital malformation 276654001
Disorder of lower limb 118937003
Disorder of bone 76069003
Developmental disorder 5294002
Finding of lower limb 116312005
Congenital disease 66091009
Bone finding 118953000
Disorder of limb 128605003
Disorder of skeletal system 88230002
Finding of limb structure 302293008
Disorder of musculoskeletal system 928000
Musculoskeletal finding 106028002
Disorder of body system 362965005
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Developmental disorder 5294002

Developmental hereditary disorder 363070008

Fibular aplasia and complex brachydactyly 715474004

SNOMED CT code