1208747005: Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

\Finding of head and neck region\Head finding (finding)\...

\Finding of head circumference\Microcephaly (finding)\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

\Finding of brain\Seizure\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

\Chronic brain syndrome\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Metabolic disease\Chronic metabolic disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Chronic disease\Chronic metabolic disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Developmental disorder\Developmental hereditary disorder\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
\Disease\Developmental disorder\Developmental delay\Global developmental delay\ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4970756012 Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4970757015 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4970758013 Martsolf-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4970759017 Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4970760010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13748931000172116 Martsolf-achtig syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

13748941000172111 inosinetrifosfaatpyrofosfohydrolase-gerelateerde letale infantiele neurologische aandoening met cataract en betrokkenheid van hart nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13748951000172113 ITP-ase-gerelateerde letale infantiele neurologische aandoening met staar en cardiale betrokkenheid nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Microcephaly (finding)	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Seizure disorder	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Global developmental delay	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Chronic brain syndrome	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Occurrence	Congenital	true	Inferred relationship	Some	2
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Finding site	Brain structure	true	Inferred relationship	Some	4
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Interprets	Head circumference	true	Inferred relationship	Some	1
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Has interpretation	Below reference range	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4970756012	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4970757015	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4970758013	Martsolf-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4970759017	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4970760010	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13748931000172116	Martsolf-achtig syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
13748941000172111	inosinetrifosfaatpyrofosfohydrolase-gerelateerde letale infantiele neurologische aandoening met cataract en betrokkenheid van hart	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13748951000172113	ITP-ase-gerelateerde letale infantiele neurologische aandoening met staar en cardiale betrokkenheid	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)