718222000: Autosomal dominant popliteal pterygium syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Finding of limb structure\Finding of lower limb\Finding of knee region\Disorder of knee\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Disorder of joint region\Disorder of knee\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant popliteal pterygium syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant popliteal pterygium syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of knee\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant popliteal pterygium syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311572010	Autosomal dominant popliteal pterygium syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3311573017	Autosomal dominant popliteal pterygium syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3311574011	Facio-genito-popliteal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3311575012	Popliteal web syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3311576013	A rare genetic malformation disorder with characteristics of cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Associated with mutations in the IRF6 gene (1q32.2-q32.3) which is involved in the formation of connective and epithelial tissues. Follows an autosomal dominant pattern of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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