721296004: syndrome de Furhmann (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\syndrome de Furhmann

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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\syndrome de Furhmann
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome de Furhmann
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome de Furhmann
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\syndrome de Furhmann
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\syndrome de Furhmann
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\syndrome de Furhmann
\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\syndrome de Furhmann
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\syndrome de Furhmann
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Furhmann
\Disease\affection d'une extrémité\Congenital anomaly of limb\syndrome de Furhmann
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\syndrome de Furhmann
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\syndrome de Furhmann
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Furhmann
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\syndrome de Furhmann
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Furhmann
\Disease\trouble du développement\Developmental hereditary disorder\syndrome de Furhmann
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\syndrome de Furhmann
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\syndrome de Furhmann
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\syndrome de Furhmann
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\syndrome de Furhmann

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1017381000172119 syndrome de Furhmann fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3324896012 Fuhrmann syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324897015 Fuhrmann syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324898013 Fuhrmann Rieger de Sousa syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

757151000241114 syndrome de Furhmann (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

895641000172110 syndrome d'hypoplasie ou aplasie du péroné, incurvation du fémur, oligodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3324899017 This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome de Furhmann	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome de Furhmann	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome de Furhmann	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
syndrome de Furhmann	localisation d'une constatation (attribut)	structure d'un membre	true	Inferred relationship	Some	1
syndrome de Furhmann	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
syndrome de Furhmann	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
syndrome de Furhmann	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
syndrome de Furhmann	est un(e) (attribut)	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
syndrome de Furhmann	est un(e) (attribut)	Congenital anomaly of limb	true	Inferred relationship	Some
syndrome de Furhmann	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
syndrome de Furhmann	est un(e) (attribut)	Dysostosis	true	Inferred relationship	Some
syndrome de Furhmann	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
syndrome de Furhmann	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
syndrome de Furhmann	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
syndrome de Furhmann	survenue (attribut)	congénital	true	Inferred relationship	Some	2
syndrome de Furhmann	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	2
syndrome de Furhmann	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
syndrome de Furhmann	survenue (attribut)	congénital	false	Inferred relationship	Some	3
syndrome de Furhmann	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
syndrome de Furhmann	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
syndrome de Furhmann	localisation d'une constatation (attribut)	structure osseuse	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
1017381000172119	syndrome de Furhmann	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3324896012	Fuhrmann syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324897015	Fuhrmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324898013	Fuhrmann Rieger de Sousa syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
757151000241114	syndrome de Furhmann (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
895641000172110	syndrome d'hypoplasie ou aplasie du péroné, incurvation du fémur, oligodactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3324899017	This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core