Code System Concept

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Code System Concept

Code System Concept Code	230557001
Code System Concept Name	Hereditary dysautonomia with motor neuropathy (disorder)
Code System Preferred Concept Name	Hereditary dysautonomia with motor neuropathy (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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	Syndrome with characteristics of distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterised by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and oesophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
345467012	Hereditary dysautonomia with motor neuropathy	Active	Synonym	false	false
4555126013	Lisker Garcia Ramos syndrome	Active	Synonym	false	false
4555127016	Peripheral motor neuropathy dysautonomia syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autonomic neuropathy (disorder) {277879009 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Hereditary sensory and autonomic neuropathy (disorder) {128205005 , SNOMED-CT } Peripheral nerve disease (disorder) {302226006 , 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,