763462004: forme létale liée à l'X du syndrome des ptérygiums multiples (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \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\X-linked lethal multiple pterygium syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \constatation à propos du mouvement\trouble moteur\Akinesia\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Neurological finding\Motor nervous system finding\trouble moteur\Akinesia\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Movement disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642534015	X-linked lethal multiple pterygium syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642535019	X-linked lethal multiple pterygium syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
766161000241117	forme létale liée à l'X du syndrome des ptérygiums multiples (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
878911000172115	forme létale liée à l'X du syndrome des ptérygiums multiples	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3642539013	A rare genetic developmental defect during embryogenesis. The disease has the typical lethal multiple pterygium syndrome presentation comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the second or third trimester with an X-linked pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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