733037000: syndrome de German (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\syndrome de German
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\syndrome de German
• \constatation à propos de la structure d'un membre\œdème d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\syndrome de German
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\syndrome de German
• \constatation à propos du mouvement\constatation à propos du mouvement de l'articulation\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\syndrome de German
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\syndrome de German
• \Oedema\œdème d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\syndrome de German
• \Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\syndrome de German
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de German
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de German
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de German
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\syndrome de German
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\lymphœdème héréditaire\syndrome de German
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited arthrogryposis\syndrome de German
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome de German
• \Disease\affection d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\syndrome de German
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de German
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de German
• \Disease\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\syndrome de German
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\syndrome de German
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\syndrome de German
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de German
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\syndrome de German
• \Disease\trouble du développement\Primary lymphedema\lymphœdème héréditaire\syndrome de German
• \Disease\trouble du développement\Developmental hereditary disorder\lymphœdème héréditaire\syndrome de German
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited arthrogryposis\syndrome de German
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\syndrome de German
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\syndrome de German
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\syndrome de German

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1007291000172110	syndrome de German	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3498620010	German syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498621014	German syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
762811000241111	syndrome de German (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
4611842010	German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterised by arthrogryposis, hypotonia-hypokinesia sequence, and lymphoedema. Patients present distinct craniofacial appearance (tall forehead and carp shaped mouth, cleft palate), contractures, and severe hypotonia manifesting as motor delay and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections and psychomotor delay. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4611843017	German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp shaped mouth, cleft palate), contractures, and severe hypotonia manifesting as motor delay and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections and psychomotor delay. There have been no further descriptions in the literature since 1987.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start