770945001: monodactylie tétramélique (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Tetramelic monodactyly

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Tetramelic monodactyly
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\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\Dysostosis\Tetramelic monodactyly
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tetramelic monodactyly
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Tetramelic monodactyly
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tetramelic monodactyly
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tetramelic monodactyly
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Tetramelic monodactyly
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\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\Dysostosis\Tetramelic monodactyly
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Tetramelic monodactyly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Tetramelic monodactyly
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\trouble du développement\Developmental hereditary disorder\Tetramelic monodactyly
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Tetramelic monodactyly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tetramelic monodactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tetramelic monodactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Tetramelic monodactyly	est un(e) (attribut)	Congenital anomaly of digit (disorder)	false	Inferred relationship	Some
Tetramelic monodactyly	morphologie associée (attribut)	Agenesis (morphologic abnormality)	true	Inferred relationship	Some	1
Tetramelic monodactyly	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Tetramelic monodactyly	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Tetramelic monodactyly	est un(e) (attribut)	Adactyly	true	Inferred relationship	Some
Tetramelic monodactyly	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Tetramelic monodactyly	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Tetramelic monodactyly	est un(e) (attribut)	Dysostosis	true	Inferred relationship	Some
Tetramelic monodactyly	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Tetramelic monodactyly	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Tetramelic monodactyly	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Tetramelic monodactyly	localisation d'une constatation (attribut)	Entire digit	true	Inferred relationship	Some	1
Tetramelic monodactyly	localisation d'une constatation (attribut)	Bone structure of extremity	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703556012	Tetramelic monodactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703557015	Sommer Hines syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703558013	Tetramelic monodactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
770081000241119	monodactylie tétramélique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
946811000172115	syndrome de Sommer-Hines	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
995171000172118	monodactylie tétramélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3703559017	A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core