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43476002: Brachydactyly (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly

\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly

Status: current, Defined. Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

72517016 Brachydactyly en Synonym Active Case insensitive SNOMED CT core
780492016 Brachydactyly (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly	Is a	Congenital deformity	false	Inferred relationship	Some
Brachydactyly	Is a	Congenital abnormal shape of digit	true	Inferred relationship	Some
Brachydactyly	Is a	Disorder of digit	false	Inferred relationship	Some
Brachydactyly	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Brachydactyly	Finding site	Limb structure	false	Inferred relationship	Some	2
Brachydactyly	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Brachydactyly	Is a	Congenital anomaly of digit	false	Inferred relationship	Some
Brachydactyly	Is a	Longitudinal deficiency of limb	false	Inferred relationship	Some
Brachydactyly	Is a	Deformity	false	Inferred relationship	Some
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	1
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Brachydactyly	Is a	Deformity of limb	false	Inferred relationship	Some
Brachydactyly	Occurrence	Congenital	false	Inferred relationship	Some	2
Brachydactyly	Is a	Longitudinal deficiency of limb	false	Inferred relationship	Some
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Some	2
Brachydactyly	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachydactyly	Finding site	Digit structure	true	Inferred relationship	Some	1
Brachydactyly	Is a	Longitudinal deficiency of part of limb	true	Inferred relationship	Some
Brachydactyly	Finding site	Entire digit	false	Inferred relationship	Some	1
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	1
Brachydactyly	Finding site	Musculoskeletal structure of digit	false	Inferred relationship	Some
Brachydactyly	Associated morphology	Developmental abnormality	false	Inferred relationship	Some
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Brachydactyly	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrodysplasia scoliosis	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly of finger of right hand	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly of finger of left hand	Is a	True	Brachydactyly	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Hand-foot-genital syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type D	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type A3	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly of hand	Is a	True	Brachydactyly	Inferred relationship	Some
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Sugarman brachydactyly	Is a	True	Brachydactyly	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly syndrome type B	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly syndrome type C	Is a	True	Brachydactyly	Inferred relationship	Some
Brachyphalangia	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly of toes	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly syndrome type E	Is a	True	Brachydactyly	Inferred relationship	Some
Brachymegalodactyly	Is a	True	Brachydactyly	Inferred relationship	Some
Longitudinal deficiency of phalanges of hand	Is a	False	Brachydactyly	Inferred relationship	Some
Microdactyly	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly NOS	Is a	False	Brachydactyly	Inferred relationship	Some
Brachydactyly-missing phalanx	Is a	False	Brachydactyly	Inferred relationship	Some
Brachydactyly-all 3 phalanges	Is a	False	Brachydactyly	Inferred relationship	Some
Familial digital arthropathy and brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Ulna fibula ray defect and brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type A2	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type A5	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type A7	Is a	True	Brachydactyly	Inferred relationship	Some
Cooks syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Heart-hand syndrome Slovenian type	Is a	True	Brachydactyly	Inferred relationship	Some
Hirschsprung disease with type D brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Mammary digital nail syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Ballard syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Keutel syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly and preaxial hallux varus syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Long thumb brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Mononen Karnes Senac syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Synbrachydactyly	Is a	False	Brachydactyly	Inferred relationship	Some
Intellectual disability, brachydactyly, Pierre Robin syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Symbrachydactyly	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome	Is a	True	Brachydactyly	Inferred relationship	Some
Cono-spondylar dysplasia	Is a	True	Brachydactyly	Inferred relationship	Some
Brachydactyly type B2	Is a	True	Brachydactyly	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
72517016	Brachydactyly	en	Synonym	Active	Case insensitive	SNOMED CT core
780492016	Brachydactyly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core