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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3786588011 Primary hyperaldosteronism, seizures, neurological abnormalities syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Finding site Brain structure true Inferred relationship Some 1
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Is a Seizure disorder true Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Finding site Adrenal cortex structure true Inferred relationship Some 2
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Is a Primary aldosteronism true Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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