715721005: brachydactylie type A4 (trouble)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Deformity (finding)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (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 A4 (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 A4 (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 A4 (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 A4 (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 A4 (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly type A4 (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 A4 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A4 (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Brachydactyly type A4 (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly type A4 (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly type A4 (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly type A4 (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 A4 (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 A4 (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 A4 (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (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 A4 (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (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 A4 (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Brachydactyly type A4 (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly type A4 (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 A4 (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 A4 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	localisation d'une constatation (attribut)	Entire middle phalanx	true	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A4 (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Brachydactyly type A4 (disorder)	est un(e) (attribut)	Brachymesophalangia	true	Inferred relationship	Some
Brachydactyly type A4 (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Brachydactyly type A4 (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Brachydactyly type A4 (disorder)	morphologie associée (attribut)	Abnormally short growth	true	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Brachydactyly type A4 (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
3303511011	Brachydactyly type A4 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303512016	Brachydactyly type A4	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303513014	Brachydactyly Temtamy type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
748331000241119	brachydactylie type A4 (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
934531000172116	brachydactylie type Temtamy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
951451000172113	brachydactylie type A4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3303514015	A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core