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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\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\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\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 (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\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 syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly syndrome type B (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short 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:

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

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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.	Is a	True	Brachydactyly syndrome type B (disorder)	Inferred relationship	Some

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
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