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Piebald trait with neurologic defects syndrome

disorder
SNOMED 773984007CUI C1868311

Overview

Piebald trait with neurologic defects syndrome 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.

Cutaneous photosensitivity
Very frequent (80-99%)HP:0000992
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Hypopigmented skin patches
Very frequent (80-99%)HP:0001053
Poikiloderma
Very frequent (80-99%)HP:0001029
Abnormality of the eyebrow
Frequent (30-79%)HP:0000534
Ataxia
Frequent (30-79%)HP:0001251
Flat, discolored area of skin
Frequent (30-79%)HP:0012733
Irregular hyperpigmentation
Frequent (30-79%)HP:0007400
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Sensorineural deafness
Frequent (30-79%)HP:0000407
Abnormality of the eyelashes
Occasional (5-29%)HP:0000499
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Heterochromia iridis
Occasional (5-29%)HP:0001100
Neoplasm of the skin
Occasional (5-29%)HP:0008069
Absent pigmentation of the ventral chest
HP:0007542
Hearing impairment
HP:0000365
Poliosis of anterior hair
HP:0002211

Related Conditions

Congenital deficiency of pigment of skin(parent)
Autosomal dominant hereditary disorder(parent)
Genetic disorder of skin pigmentation(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
773984007
UMLS CUI
C1868311
Fully Specified Name
Piebald trait with neurologic defects syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
17
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.