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Pelizaeus-Merzbacher disease in female carrier
disorderSNOMED 1003881009CUI C5438815
Overview
Pelizaeus-Merzbacher disease in female carrier is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal vocalization
Occasional (5-29%)HP:0002167
Abnormality of the lower urinary tract
Occasional (5-29%)HP:0010936
Amnestic aphasia
Occasional (5-29%)HP:0030784
CNS hypomyelination
Occasional (5-29%)HP:0003429
Corpus callosum abnormality
Occasional (5-29%)HP:0001273
Decreased alertness
Occasional (5-29%)HP:0032044
Enophthalmos
Occasional (5-29%)HP:0000490
Extensor plantar responses
Occasional (5-29%)HP:0003487
Flat midface
Occasional (5-29%)HP:0011800
Gait disturbance
Occasional (5-29%)HP:0001288
Generalised-onset seizure
Occasional (5-29%)HP:0002197
Global developmental delay, mild
Occasional (5-29%)HP:0011342
Hand apraxia
Occasional (5-29%)HP:0032588
Horizontal nystagmus
Occasional (5-29%)HP:0000666
Hyperintensity of cerebral white matter on MRI
Occasional (5-29%)HP:0030890
Inability to walk
Occasional (5-29%)HP:0002540
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased reflexes
Occasional (5-29%)HP:0001347
Intellectual deterioration
Occasional (5-29%)HP:0001268
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Lack of bladder control due to nervous system injury
Occasional (5-29%)HP:0000011
Muscular hypotonia
Occasional (5-29%)HP:0001252
Port-wine stain on forehead
Occasional (5-29%)HP:0007413
Psychomotor regression, progressive
Occasional (5-29%)HP:0002376
Psychomotor retardation, moderate
Occasional (5-29%)HP:0011343
Spastic paraparesis
Occasional (5-29%)HP:0002313
Spasticity of lower limb
Occasional (5-29%)HP:0002061
Very poor growth
Occasional (5-29%)HP:0001510
Quick Facts
- SNOMED CT
- 1003881009
- UMLS CUI
- C5438815
- Fully Specified Name
- Pelizaeus-Merzbacher disease in female carrier (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.