771261002: aplasie des muscles extenseurs des doigts et pouce-polyneuropathie (trouble)

• SNOMED CT Concept\constatation clinique\...
• \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 absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (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 absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (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 absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (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 absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\polyneuropathie\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\...
• \affection des muscles et des nerfs périphériques combinée (trouble)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon (disorder)\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\polyneuropathie\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\polyneuropathie\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon (disorder)\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon (disorder)\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\polyneuropathie\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon (disorder)\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705326018	Digital extensor muscle aplasia with polyneuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705327010	Digital extensor muscle aplasia with polyneuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705328017	Polyneuropathy, hand defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705329013	Hamanishi Ueba Tsuji syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705330015	Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705331016	Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
770401000241117	aplasie des muscles extenseurs des doigts et pouce-polyneuropathie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
930711000172111	aplasie des muscles extenseurs des doigts et pouce-polyneuropathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
968211000172113	syndrome de Hamanishi-Ueba-Tsuji	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3705332011	A rare hereditary motor and sensory neuropathy with characteristics of flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	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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