389168002: syndrome de brachydactylie type B (trouble)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)

\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Brachydactyly syndrome type B (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brachydactyly syndrome type B (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Brachydactyly syndrome type B (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\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)	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)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	est un(e) (attribut)	Acromesomelic dysplasia syndrome	true	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	est un(e) (attribut)	brachydactylie	true	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	Musculoskeletal structure of limb	false	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Brachydactyly syndrome type B (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
Brachydactyly syndrome type B (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Brachydactyly syndrome type B (disorder)	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	4
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	4
Brachydactyly syndrome type B (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
Brachydactyly syndrome type B (disorder)	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	localisation d'une constatation (attribut)	Entire digit	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Coloboma of macula with brachydactyly type B syndrome (disorder)	est un(e) (attribut)	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
709431000077112	syndrome de brachydactylie type B (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
86581000077116	syndrome de brachydactylie type B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)