1222704008: Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Poor muscle tone\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

\Central nervous system finding\Disorder of the central nervous system\...

\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

\Finding of neonate\Neonatal disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

\Muscle finding\Finding of muscle tone\Poor muscle tone\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Muscle finding\Finding of muscle tone\Decreased muscle tone\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

\Musculoskeletal finding\Poor muscle tone\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of fetus or newborn\Neonatal disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Combined disorder of muscle AND peripheral nerve\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Chronic disease\Chronic nervous system disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5048588011 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5048589015 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Peripheral axonal neuropathy	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Chronic nervous system disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Mixed sensory-motor polyneuropathy	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Hereditary motor and sensory neuropathy	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Decreased muscle tone	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Interprets	Muscle tone	true	Inferred relationship	Existential restriction modifier	4
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Occurrence	Neonatal	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Neonatal disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Congenital polyneuropathy	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Combined disorder of muscle AND peripheral nerve	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Poor muscle tone	true	Inferred relationship	Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Finding site	Peripheral nerve structure	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Finding site	Axon structure	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5048588011	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5048589015	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module