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768473009: Purine rich element binding protein A syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3685731017 Purine rich element binding protein A syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3685732012 PURA-related neurodevelopmental disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685733019 PURA (purine rich element binding protein A) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685734013 Purine rich element binding protein A syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3685735014 PURA syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685736010 PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404733017 A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404734011 A rare neurologic disease characterised by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685731017 Purine rich element binding protein A syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3685732012 PURA-related neurodevelopmental disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685733019 PURA (purine rich element binding protein A) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685734013 Purine rich element binding protein A syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3685735014 PURA syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685736010 PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3685737018 Syndrome with manifestations of intellectual disability and delayed development of speech and motor skills with expressive language skills generally more severely affected. Individuals may be unable to speak, learn to walk later or may never walk. In infancy hypotonia and feeding difficulties may be present along with dysphagia, hypersomnolence, hypothermia and hypoventilation. Recurrent seizures are common. Caused by mutations in the PURA gene, which provides instructions for the protein Pur-alpha. This protein has multiple roles in cells, including gene transcription and replication of DNA. The disease is inherited in an autosomal dominant pattern, however most cases result from de novo mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404733017 A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404734011 A rare neurologic disease characterised by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3396731001000112 PURA-abhängige schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396731001000112 PURA-abhängige schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom 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
Purine rich element binding protein A syndrome (disorder) Is a Seizure disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Purine rich element binding protein A syndrome (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Purine rich element binding protein A syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Purine rich element binding protein A syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Purine rich element binding protein A syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Purine rich element binding protein A syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Purine rich element binding protein A syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Purine rich element binding protein A syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Purine rich element binding protein A syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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