Brachydactyly type A1 715720006

SNOMED CT code

SNOMED code

715720006

name

Brachydactyly type A1

status

active

date introduced

2016-07-31

fully specified name(s)

Brachydactyly type A1 (disorder)

synonyms

Brachydactyly type A1
Brachydactyly Farabee type

attributes - group1

Pathological process

Pathological developmental process 308490002

Finding site

Entire phalanx 290029003

Associated morphology

Abnormally short growth 11182007

Occurrence

Congenital 255399007

parents

Autosomal dominant hereditary disorder 11164009
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Brachyphalangia 38998004

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
Brachydactyly type A1 715720006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Brachydactyly type A1 715720006

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Brachydactyly type A1 715720006

SNOMED CT Concept 138875005
Clinical finding 404684003
Deformity 417893002
Deformation of bone 298356007
Brachyphalangia 38998004
Brachydactyly type A1 715720006

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Brachyphalangia 38998004
Autosomal hereditary disorder 1899006
Hereditary disorder by system 363137000
Deformation of bone 298356007
Brachydactyly 43476002
Congenital anomaly of skeletal bone 8447006
Hereditary disease 32895009
Longitudinal deficiency of part of limb 716638009
Disorder of bone development 371521007
Congenital abnormal shape of digit 92907008
Congenital anomaly of musculoskeletal system 73573004
Genetic disease 782964007
Congenital deformity 276655000
Congenital anomaly of digit 403855001
Deformity of limb 445144002
Disorder of bone 76069003
Bone finding 118953000
Deformity 417893002
Disorder of digit 128597007
Congenital anomaly of limb 60475009
Disorder of skeletal system 88230002
Disorder of musculoskeletal system 928000
Congenital malformation 276654001
Disorder of limb 128605003
Musculoskeletal finding 106028002
Developmental disorder 5294002
Disorder of body system 362965005
Finding of limb structure 302293008
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

cpt crosswalks

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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

Brachydactyly type A1 715720006

SNOMED CT code