Code System Concept

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Code System Concept

Code System Concept Code	1197059004
Code System Concept Name	Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
Code System Preferred Concept Name	Congenital ichthyosis, microcephalus, tetraplegia syndrome (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Superseded By Concept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	09/01/2022
SDO Date Created	02/28/2022
SDO Date Revised	02/28/2022
Description	A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4694785016	Congenital ichthyosis, microcephalus, tetraplegia syndrome	Active	Synonym	false	false
4694786015	Congenital ichthyosis, microcephalus, quadriplegia syndrome	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)

Athetosis (disorder) {44913001 , SNOMED-CT } Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Autosomal hereditary disorder (disorder) {1899006 , SNOMED-CT } Congenital ichthyosis of skin (disorder) {13059002 , SNOMED-CT } Decreased hearing (finding) {103276001 , SNOMED-CT } Developmental delay (disorder) {248290002 , SNOMED-CT } Disorder of skeletal AND/OR smooth muscle (disorder) {129565002 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Microcephaly (finding) {1148757008 , SNOMED-CT } Myoclonus (finding) {17450006 , SNOMED-CT } Sensorineural hearing loss (disorder) {60700002 , SNOMED-CT } Spastic tetraplegia (disorder) {192965001 , 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,