718222000: syndrome des ptérygiums poplités autosomique dominant (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of knee region\Disorder of knee (disorder)\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\Disorder of joint region\Disorder of knee (disorder)\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of knee (disorder)\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal 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\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Autosomal dominant popliteal 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\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Popliteal pterygium syndrome\Autosomal dominant popliteal pterygium syndrome (disorder)

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
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
752211000241116	syndrome des ptérygiums poplités autosomique dominant (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
877101000172119	syndrome de la bride poplitée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
946031000172115	syndrome des ptérygiums poplités autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start