771269000: syndrome des ptérygiums multiples autosomique dominant (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \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\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \constatation à propos du mouvement\Movement disorder\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \constatation à propos du mouvement\trouble moteur\Akinesia\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Neurological finding\Motor nervous system finding\trouble moteur\Akinesia\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\syndrome des ptérygiums multiples autosomique dominant
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Movement disorder\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \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\syndrome des ptérygiums multiples autosomique dominant
• \Disease\trouble du développement\Developmental hereditary disorder\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\syndrome des ptérygiums multiples autosomique dominant
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\syndrome des ptérygiums multiples autosomique dominant

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1018151000172113	syndrome des ptérygiums multiples autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3705361012	Autosomal dominant multiple pterygium syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705362017	Distal arthrogryposis type 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705363010	Autosomal dominant multiple pterygium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
770451000241116	syndrome des ptérygiums multiples autosomique dominant (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
929171000172112	arthrogrypose distale type 8	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3705364016	A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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