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720570007: Brachydactyly type A5 (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type A5
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type A5

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly type A5
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly type A5
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type A5
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type A5
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type A5
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly type A5
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly type A5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly type A5

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3321278014 Brachydactyly type A5 (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3321279018 Brachydactyly type A5 en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly type A5	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachydactyly type A5	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier
Brachydactyly type A5	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly type A5	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly type A5	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly type A5	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly type A5	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3321278014	Brachydactyly type A5 (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3321279018	Brachydactyly type A5	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module