726735000: amélie autosomique récessive (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal recessive amelia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Autosomal recessive amelia (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Autosomal recessive amelia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Amelia\Congenital complete absence of upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3452314017	Autosomal recessive amelia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452315016	Autosomal recessive amelia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
762421000241119	amélie autosomique récessive (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
882501000172118	amélie autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3452316015	Syndrome with characteristics of absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents.	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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