1237626001: Congenital axonal neuropathy with encephalopathy (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital axonal neuropathy with encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital axonal neuropathy with encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Axonal neuropathy\Congenital axonal neuropathy with encephalopathy

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Congenital axonal neuropathy with encephalopathy

\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital axonal neuropathy with encephalopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Congenital axonal neuropathy with encephalopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital axonal neuropathy with encephalopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Congenital axonal neuropathy with encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Congenital axonal neuropathy with encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Congenital axonal neuropathy with encephalopathy
\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)\Congenital axonal neuropathy with encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital axonal neuropathy with encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Congenital axonal neuropathy with encephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital axonal neuropathy with encephalopathy
\Disease\Congenital disease (disorder)\Congenital axonal neuropathy with encephalopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5100117019 Congenital axonal neuropathy with encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5100118012 Congenital axonal neuropathy with encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5100119016 A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterised by axonal neuropathy, manifesting at birth or shortly thereafter with generalised muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5100120010 A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13765531000172111 aangeboren axonale neuropathie met encefalopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13765541000172116 congenitale axonale neuropathie met encefalopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital axonal neuropathy with encephalopathy	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Congenital axonal neuropathy with encephalopathy	Is a	Axonal neuropathy	true	Inferred relationship	Some
Congenital axonal neuropathy with encephalopathy	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital axonal neuropathy with encephalopathy	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Congenital axonal neuropathy with encephalopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital axonal neuropathy with encephalopathy	Finding site	Brain structure	true	Inferred relationship	Some	4
Congenital axonal neuropathy with encephalopathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital axonal neuropathy with encephalopathy	Finding site	Nerve structure	true	Inferred relationship	Some	1
Congenital axonal neuropathy with encephalopathy	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital axonal neuropathy with encephalopathy	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Congenital axonal neuropathy with encephalopathy	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital axonal neuropathy with encephalopathy	Finding site	Axon structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5100117019	Congenital axonal neuropathy with encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100118012	Congenital axonal neuropathy with encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5100119016	A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterised by axonal neuropathy, manifesting at birth or shortly thereafter with generalised muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100120010	A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13765531000172111	aangeboren axonale neuropathie met encefalopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13765541000172116	congenitale axonale neuropathie met encefalopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)