389168002: Brachydactyly syndrome type B (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B

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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type B

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly syndrome type B
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brachydactyly syndrome type B
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly syndrome type B
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia group\Brachydactyly syndrome type B
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1463347018 Brachydactyly syndrome type B (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1483220017 Brachydactyly syndrome type B 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 syndrome type B	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type B	Is a	Acromesomelic dysplasia group	true	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type B	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type B	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type B	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type B	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type B	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type B	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type B	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Brachydactyly syndrome type B	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly syndrome type B	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Brachydactyly syndrome type B	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type B	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type B	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachydactyly syndrome type B	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Brachydactyly syndrome type B	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly syndrome type B	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	4
Brachydactyly syndrome type B	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type B	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type B	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type B	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachydactyly syndrome type B	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Brachydactyly syndrome type B	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Coloboma of macula with brachydactyly type B syndrome	Is a	True	Brachydactyly syndrome type B	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1463347018	Brachydactyly syndrome type B (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1483220017	Brachydactyly syndrome type B	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module