389168002: Brachydactyly syndrome type B (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type B (disorder)

\Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B (disorder)

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

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly syndrome type B (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Is a	Acromesomelic dysplasia group (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Is a	Brachydactyly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Finding site	Musculoskeletal structure of limb (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly syndrome type B (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly syndrome type B (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly syndrome type B (disorder)	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly syndrome type B (disorder)	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly syndrome type B (disorder)	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly syndrome type B (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Finding site	Entire digit	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly syndrome type B (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type B (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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

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 (core metadata concept)	SNOMED CT core
1483220017	Brachydactyly syndrome type B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1463347018	Brachydactyly syndrome type B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1483220017	Brachydactyly syndrome type B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3418671001000112	Brachydaktylie Typ B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
86581000077116	syndrome de brachydactylie type B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
86581000077116	syndrome de brachydactylie type B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418671001000112	Brachydaktylie Typ B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module