718222000: Autosomal dominant popliteal pterygium syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Finding of limb structure\Finding of lower limb\Finding of knee region\Disorder of knee (disorder)\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Disorder of joint region\Disorder of knee (disorder)\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5401734010	A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401735011	A rare genetic, multiple congenital anomalies syndrome characterised by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311572010	Autosomal dominant popliteal pterygium syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311573017	Autosomal dominant popliteal pterygium syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311574011	Facio-genito-popliteal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3311575012	Popliteal web syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
877101000172119	syndrome de la bride poplitée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
946031000172115	syndrome des ptérygiums poplités autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430181001000113	Popliteales Pterygium-Syndrom, autosomal-dominantes	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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