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431641000124107: Hereditary cerebellar atrophy (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Sep 2012. Module: US National Library of Medicine maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module
625861000124114 Hereditary cerebellar atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) US National Library of Medicine maintained module (core metadata concept)
625871000124119 Hereditary cerebellar atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) US National Library of Medicine maintained module (core metadata concept)


10 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary cerebellar atrophy (disorder) Is a Hereditary disease false Inferred relationship Some
Hereditary cerebellar atrophy (disorder) Finding site Cerebellar structure true Inferred relationship Some 1
Hereditary cerebellar atrophy (disorder) Associated morphology Atrophy true Inferred relationship Some 1
Hereditary cerebellar atrophy (disorder) Is a Degenerative disorder false Inferred relationship Some
Hereditary cerebellar atrophy (disorder) Is a Cerebellar disorder false Inferred relationship Some
Hereditary cerebellar atrophy (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Hereditary cerebellar atrophy (disorder) Is a Hereditary cerebellar degeneration true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 29 Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some
Spinocerebellar ataxia type 45 (disorder) Is a True Hereditary cerebellar atrophy (disorder) Inferred relationship Some

This concept is not in any reference sets

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