715722003: brachydactylie type A6 (trouble)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Deformity (finding)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)

\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (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\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (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\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (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\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly type A6 (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\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A6 (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Brachydactyly type A6 (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly type A6 (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A6 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly type A6 (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\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Brachydactyly type A6 (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A6 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly type A6 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	localisation d'une constatation (attribut)	Entire middle phalanx	true	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A6 (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A6 (disorder)	est un(e) (attribut)	Brachymesophalangia	true	Inferred relationship	Some
Brachydactyly type A6 (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Brachydactyly type A6 (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly type A6 (disorder)	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	localisation d'une constatation (attribut)	Entire phalanx	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3303515019	Brachydactyly type A6 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303516018	Brachydactyly type A6	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303517010	Osebold Remondini syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
748341000241112	brachydactylie type A6 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
891441000172111	brachydactylie type A6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
911601000172119	syndrome d'Osebold-Remondini	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3303518017	Manifestations of brachymesophalangy with mesomelic short limbs and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. Transmission appears to be autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core