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

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
5399874010 A rare, genetic, neurometabolic disease characterized by 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
5399875011 A rare, genetic, neurometabolic disease characterised by 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
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
5399874010 A rare, genetic, neurometabolic disease characterized by 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
5399875011 A rare, genetic, neurometabolic disease characterised by 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
3428931001000114 ITPA-assoziierte letale infantile neurologische Störung mit Katarakt und kardialer Beteiligung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428931001000114 ITPA-assoziierte letale infantile neurologische Störung mit Katarakt und kardialer Beteiligung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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