Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 1237626001 |
Code System Concept Name | Congenital axonal neuropathy with encephalopathy (disorder) |
Code System Preferred Concept Name | Congenital axonal neuropathy with encephalopathy (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 03/01/2023 |
SDO Date Created | 09/30/2022 |
SDO Date Revised | 09/30/2022 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
5100117019 | Congenital axonal neuropathy with encephalopathy | Active | Synonym | false | false |
Associated Value Sets
Value Set Name | Version(s) | |
---|---|---|
Clinical Finding (NNDSS) | 1 |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Axonal neuropathy (disorder)
{60703000
, SNOMED-CT
}
Congenital disease (disorder)
{66091009
, SNOMED-CT
}
Disorder of brain (disorder)
{81308009
, SNOMED-CT
}
Hereditary motor and sensory neuropathy (disorder)
{398100001
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: