Hypoplastic tibia and postaxial polydactyly syndrome 716741008

SNOMED CT code

SNOMED code

716741008

name

Hypoplastic tibia and postaxial polydactyly syndrome

status

active

date introduced

2016-07-31

fully specified name(s)

Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)

synonyms

Hypoplastic tibia and postaxial polydactyly syndrome
Werner mesomelic syndrome
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome

attributes - group1

Occurrence

Congenital 255399007

Finding site

Digit structure 82680008

Pathological process

Pathological developmental process 308490002

Associated morphology

Supernumerary structure 91431006

attributes - group2

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Associated morphology

Hypoplasia 55199003

Finding site

Bone structure of tibia 12611008

parents

Autosomal dominant hereditary disorder 11164009
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Polydactyly 367506006
Congenital hypoplasia of tibia 93298007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Hypoplastic tibia and postaxial polydactyly syndrome 716741008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Hypoplastic tibia and postaxial polydactyly syndrome 716741008

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Hypoplastic tibia and postaxial polydactyly syndrome 716741008

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Disorder of digit 128597007
Congenital anomaly of digit 403855001
Polydactyly 367506006
Hypoplastic tibia and postaxial polydactyly syndrome 716741008

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Finding of lower limb 116312005
Finding of bone of lower limb 879910002
Congenital anomaly of tibia 123563003
Congenital hypoplasia of tibia 93298007
Hypoplastic tibia and postaxial polydactyly syndrome 716741008

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Polydactyly 367506006
Congenital hypoplasia of tibia 93298007
Autosomal hereditary disorder 1899006
Hereditary disorder by system 363137000
Congenital anomaly of digit 403855001
Congenital anomaly of tibia 123563003
Polymelia 89243009
Hypoplasia of lower limb 253959002
Hereditary disease 32895009
Disorder of digit 128597007
Disorder of lower leg 128137003
Congenital anomaly of lower limb 84773003
Congenital anomaly of skeletal bone 8447006
Finding of bone of lower limb 879910002
Genetic disease 782964007
Disorder of free lower limb 700012005
Congenital anomaly of limb 60475009
Disorder of bone development 371521007
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital anomaly of musculoskeletal system 73573004
Disorder of lower limb 118937003
Congenital malformation 276654001
Disorder of bone 76069003
Disorder of limb 128605003
Finding of lower limb 116312005
Developmental disorder 5294002
Bone finding 118953000
Congenital disease 66091009
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

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Hypoplastic tibia and postaxial polydactyly syndrome 716741008

SNOMED CT code