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789063000: Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3786587018 Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3786588011 Primary hyperaldosteronism, seizures, neurological abnormalities syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3786589015 A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3786590012 A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalaemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale true Inferred relationship Some 1
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) est un(e) (attribut) trouble convulsif true Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) localisation d'une constatation (attribut) cortex surrénalien true Inferred relationship Some 2
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) est un(e) (attribut) Primary aldosteronism true Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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