DiseaseID 16006

神经元核内包涵体病

disease

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Disease: 1Symptom: 1Target: 12Links: 13

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Record Fields

Scalar fields from the final disease record.

Disease Id: 16006
Core Entity Id: 74018
Source Entity Count: 1
Preferred Name: Neuronal Intranuclear Inclusion Disease
Name Cn: 神经元核内包涵体病
Name Pinyin: Shen Jing Yuan He Nei Bao Han Ti Bing
Name En: Neuronal Intranuclear Inclusion Disease
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Disease or Syndrome
Disgenet Type: disease
Mesh Class: Nervous System Diseases
Do Class
Hpo Class
Mesh Class Name: Nervous System Diseases
Hpo Class Name
Do Class Name
Disease Definition: SNOMEDCT_US_2016_09_01:A very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioral or cognitive difficulties. Most cases are sporadic.|SNOMEDCT_US_2016_09_01:A very rare multisystem neurodegenerative disorder characterised by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioural or cognitive difficulties. Most cases are sporadic.|NCI2016_02D:A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive abnormalities.
Version: v2
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Neuronal Intranuclear Inclusion Disease

Role

preferred

Cross References

Trusted external identifiers retained for this final record.

Herb

HBDIS018060

Omim

603472

Umls

C1863843

Sym Map

SMDE11453

Dis Ge Net

C1863843

Umls Sty

T047

Me Sh Class

C10

Tcmbank Disease

27258

Attributes

Merged source attributes and domain-specific metadata.

Version

Suppress

Disease Type

disease

Umls Disease Type

Disease or Syndrome

Disease Definition

SNOMEDCT_US_2016_09_01:A very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioral or cognitive difficulties. Most cases are sporadic.|SNOMEDCT_US_2016_09_01:A very rare multisystem neurodegenerative disorder characterised by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioural or cognitive difficulties. Most cases are sporadic.|NCI2016_02D:A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive abnormalities.

Me Sh Disease Class

Nervous System Diseases

Dis Ge Net Disease Type

disease

Disease Class Name Me Sh

Nervous System Diseases

Umls Semantic Type Name

Disease or Syndrome