Code System Concept

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Code System Concept

Code System Concept Code	1208747005
Code System Concept Name	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)
Code System Preferred Concept Name	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (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Superseded By Concept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	03/31/2022
SDO Date Revised	03/31/2022
Description	A rare genetic neurometabolic disease with characteristics of early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4970756012	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement	Active	Synonym	false	false
4970757015	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Active	Synonym	false	false
4970758013	Martsolf-like syndrome	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 } Chronic brain syndrome (disorder) {78689005 , SNOMED-CT } Chronic metabolic disorder (disorder) {128289001 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of purine metabolism (disorder) {32612005 , SNOMED-CT } Global developmental delay (disorder) {224958001 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT } Microcephaly (finding) {1148757008 , SNOMED-CT } Seizure disorder (disorder) {128613002 , 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,