763462004: X-linked lethal multiple pterygium syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity\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)\Skin or mucosa lesion\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\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Finding of movement (finding)\Finding of joint movement\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)
• \Finding of movement (finding)\Movement disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Finding of movement (finding)\Motor dysfunction\Akinesia\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Neurological finding\Motor nervous system finding\Motor dysfunction\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Congenital disease (disorder)\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\Soft tissue lesion\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Multiple pterygium syndrome\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\X-linked lethal multiple pterygium syndrome (disorder)
• \Disease\Developmental disorder\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
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
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 Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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