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

\Musculoskeletal finding\Poor muscle tone\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\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\Neurological disorder\Neuropathy\Peripheral neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Polyneuropathy\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\Chronic nervous system disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Polyneuropathy\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\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\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Axonal neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Congenital disease\Congenital anomaly\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 neuropathy\Peripheral axonal neuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Motor polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral neuropathy\Polyneuropathy\Sensory polyneuropathy\Mixed sensory-motor polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Peripheral neuropathy\Congenital anomaly of peripheral nerve\Congenital polyneuropathy\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

5048589015 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy en Synonym Active Case insensitive SNOMED CT core

5048590012 A rare genetic autosomal recessive axonal hereditary motor and sensory neuropathy disease with characteristics of prenatal onset of a severe sensorimotor axonal polyneuropathy reflected by reduced fetal movement and polyhydramnios. The disease manifests at birth with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness and absent deep tendon reflexes in the absence of contractures leading to death before 8 months of age. Neuropathological findings show severe loss of large and medium sized myelinated fibers without signs of demyelination. en Definition Active Case sensitive SNOMED CT core

5048591011 A rare genetic autosomal recessive axonal hereditary motor and sensory neuropathy disease with characteristics of prenatal onset of a severe sensorimotor axonal polyneuropathy reflected by reduced fetal movement and polyhydramnios. The disease manifests at birth with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness and absent deep tendon reflexes in the absence of contractures leading to death before 8 months of age. Neuropathological findings show severe loss of large and medium sized myelinated fibres without signs of demyelination. en Definition Active Case sensitive SNOMED CT core

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	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Chronic nervous system disorder	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Mixed sensory-motor polyneuropathy	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Hereditary motor and sensory neuropathy	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Clinical course	Progressive	true	Inferred relationship	Some	1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Decreased muscle tone	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Interprets	Muscle tone	true	Inferred relationship	Some	4
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Has interpretation	Decreased	true	Inferred relationship	Some	4
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Occurrence	Neonatal	true	Inferred relationship	Some	2
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Neonatal disorder	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Congenital polyneuropathy	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Myoneural disorder	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Is a	Poor muscle tone	true	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Occurrence	Congenital	true	Inferred relationship	Some	5
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Finding site	Axon structure	true	Inferred relationship	Some	5
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5048588011	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048589015	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
5048590012	A rare genetic autosomal recessive axonal hereditary motor and sensory neuropathy disease with characteristics of prenatal onset of a severe sensorimotor axonal polyneuropathy reflected by reduced fetal movement and polyhydramnios. The disease manifests at birth with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness and absent deep tendon reflexes in the absence of contractures leading to death before 8 months of age. Neuropathological findings show severe loss of large and medium sized myelinated fibers without signs of demyelination.	en	Definition	Active	Case sensitive	SNOMED CT core
5048591011	A rare genetic autosomal recessive axonal hereditary motor and sensory neuropathy disease with characteristics of prenatal onset of a severe sensorimotor axonal polyneuropathy reflected by reduced fetal movement and polyhydramnios. The disease manifests at birth with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness and absent deep tendon reflexes in the absence of contractures leading to death before 8 months of age. Neuropathological findings show severe loss of large and medium sized myelinated fibres without signs of demyelination.	en	Definition	Active	Case sensitive	SNOMED CT core