Code System Concept

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Code System Concept

Code System Concept Code	1279831004
Code System Concept Name	Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)
Code System Preferred Concept Name	Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

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Superseded By Concept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	03/01/2024
SDO Date Created	04/30/2023
SDO Date Revised	04/30/2023
Description	A rare genetic peripheral neuropathy with characteristics of complete congenital insensitivity to painful stimuli commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. Caused by homozygous or compound heterozygous mutations in the SCN9A gene on chromosome 2q24.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5234014015	Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain	Active	Synonym	false	false
5234015019	Congenital insensitivity to pain, anosmia, neuropathic arthropathy	Active	Synonym	false	false
5234016018	SCN9A-related congenital insensitivity to pain	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Arthropathy associated with a neurological disorder (disorder) {67536000 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anosmia (disorder) {230502003 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Finding of sensation of joint (finding) {298249004 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary sensory and autonomic neuropathy (disorder) {128205005 , 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:
- Centers for Disease Control and Prevention,