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\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type B (disorder)

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\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\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)\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\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\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of 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\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\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\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)\Brachydactyly\Brachydactyly syndrome type B (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\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)\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\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

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	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	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 (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	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	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
Coloboma of macula with brachydactyly type B syndrome (disorder)	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