771261002: Digital extensor muscle aplasia with polyneuropathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\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.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\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.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\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.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\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.
\Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of part of upper limb\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.
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\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.

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\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.
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\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.
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\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.
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.

\Muscle finding\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\...

\Myoneural disorder\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.

\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\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.

\Disorder of skeletal muscle\Myoneural disorder\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.
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.

\Congenital anomaly of musculoskeletal system\Aplasia of muscle\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.
\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.
\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon\Congenital absence of skeletal muscle\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.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\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.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\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.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\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.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Aplasia of muscle\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.
\Disease\Disorder of foetus and/or newborn\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\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.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon\Congenital absence of skeletal muscle\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.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\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.
\Disease\Disorder of foetus and/or newborn\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\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.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\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.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\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.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\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.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Polyneuropathy\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.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\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.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\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.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\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.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\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.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\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.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\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.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Aplasia of muscle\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.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon\Congenital absence of skeletal muscle\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.
\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Myoneural disorder\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.
\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\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.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Aplasia of limb\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.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\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.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\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.
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\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.
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\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.
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.
\Disease\Developmental disorder\Developmental hereditary disorder\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.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Aplasia of muscle\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.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\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.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital absence of muscle AND/OR tendon\Congenital absence of skeletal muscle\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.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Aplasia of limb\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.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\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.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\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.

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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.	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
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.	Finding site	Structure of extensor muscle of hand (body structure)	true	Inferred relationship	Some	1
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.	Associated morphology	Aplasia	true	Inferred relationship	Some	1
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.	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
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.	Occurrence	Congenital	true	Inferred relationship	Some	1
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.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
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.	Is a	Myoneural disorder	true	Inferred relationship	Some
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.	Occurrence	Congenital	true	Inferred relationship	Some	2
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.	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	2
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.	Is a	Aplasia of muscle	true	Inferred relationship	Some
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.	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
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.	Is a	Polyneuropathy	true	Inferred relationship	Some
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.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
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.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
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.	Is a	Congenital anomaly of upper limb	false	Inferred relationship	Some
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.	Is a	Absence of upper limb (finding)	false	Inferred relationship	Some
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.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
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.	Is a	Congenital absence of part of upper limb	true	Inferred relationship	Some
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.	Is a	Congenital absence of skeletal muscle	true	Inferred relationship	Some
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.	Is a	Aplasia of limb	true	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
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
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