771261002: Digital extensor muscle aplasia with polyneuropathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy
• \Finding of limb structure\Disorder of extremity\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
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy
• \Finding of limb structure\Finding of upper limb\Absence of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Digital extensor muscle aplasia with polyneuropathy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\...
• \Myoneural disorder\Digital extensor muscle aplasia with polyneuropathy
• \Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy
• \Disorder of skeletal muscle\Myoneural disorder\Digital extensor muscle aplasia with polyneuropathy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy
• \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
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of body system\Musculoskeletal 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
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of extremity\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
• \Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Congenital disease\Congenital anomaly\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
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Congenital disease\Congenital anomaly\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
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Developmental disorder\Developmental hereditary disorder\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Developmental disorder\Congenital anomaly\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
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy
• \Disease\Developmental disorder\Congenital anomaly\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
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3705327010	Digital extensor muscle aplasia with polyneuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3705328017	Polyneuropathy, hand defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3705329013	Hamanishi Ueba Tsuji syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3705330015	Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3705331016	Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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