771261002: Digital extensor muscle aplasia with polyneuropathy (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper extremity\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 extremity\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 nerve disease\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\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\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\...

\Combined disorder of muscle AND peripheral nerve\Digital extensor muscle aplasia with polyneuropathy

\Congenital anomaly of skeletal muscle\Congenital absence of skeletal muscle\Digital extensor muscle aplasia with polyneuropathy

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

\Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy

\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\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\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
\Disease\Disorder of body system\Disorder of nervous 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\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Combined disorder of muscle AND peripheral nerve\Digital extensor muscle aplasia with polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Digital extensor muscle aplasia with polyneuropathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Digital extensor muscle aplasia with polyneuropathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy
\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\Digital extensor muscle aplasia with polyneuropathy
\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\Digital extensor muscle aplasia with polyneuropathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Digital extensor muscle aplasia with polyneuropathy
\Disease\Disorder of skeletal AND/OR smooth muscle\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 extremity\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 malformation\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy
\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
\Disease\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\Digital extensor muscle aplasia with polyneuropathy
\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
\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
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Digital extensor muscle aplasia with polyneuropathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\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 malformation\Congenital anomaly of musculoskeletal system\Aplasia of muscle\Digital extensor muscle aplasia with polyneuropathy
\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\Digital extensor muscle aplasia with polyneuropathy
\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\Digital extensor muscle aplasia with polyneuropathy
\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\Digital extensor muscle aplasia with polyneuropathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Digital extensor muscle aplasia with polyneuropathy

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

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 SNOMED CT core module

3705327010 Digital extensor muscle aplasia with polyneuropathy en Synonym Active Entire term case insensitive SNOMED CT core module

3705328017 Polyneuropathy, hand defect syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3705329013 Hamanishi Ueba Tsuji syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3705330015 Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy en Synonym Active Entire term case insensitive SNOMED CT core module

3705331016 Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Digital extensor muscle aplasia with polyneuropathy	Is a	Hereditary motor and sensory neuropathy	true	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Finding site	Structure of extensor muscle of hand	true	Inferred relationship	Existential restriction modifier	1
Digital extensor muscle aplasia with polyneuropathy	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier	1
Digital extensor muscle aplasia with polyneuropathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Digital extensor muscle aplasia with polyneuropathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Is a	Combined disorder of muscle AND peripheral nerve	true	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Digital extensor muscle aplasia with polyneuropathy	Finding site	Peripheral nerve structure	true	Inferred relationship	Existential restriction modifier	2
Digital extensor muscle aplasia with polyneuropathy	Is a	Aplasia of muscle	true	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Is a	Polyneuropathy	true	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Digital extensor muscle aplasia with polyneuropathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Digital extensor muscle aplasia with polyneuropathy	Is a	Congenital anomaly of upper limb	false	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Is a	Absence of upper limb	false	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Is a	Congenital absence of part of upper limb	true	Inferred relationship	Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy	Is a	Congenital absence of skeletal muscle	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3705326018	Digital extensor muscle aplasia with polyneuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3705327010	Digital extensor muscle aplasia with polyneuropathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3705328017	Polyneuropathy, hand defect syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3705329013	Hamanishi Ueba Tsuji syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3705330015	Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3705331016	Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module