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Hypopigmentation-immunodeficiency disease

disorder
SNOMED 37548006CUI C0398794

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hypopigmented skin patches
Very frequent (80-99%)HP:0001053
Premature graying of the hair
Very frequent (80-99%)HP:0002216
Silver-gray hair
Very frequent (80-99%)HP:0002218
White hair
Very frequent (80-99%)HP:0011364
Abnormal circulating lipid concentration
Frequent (30-79%)HP:0003119
Abnormality of neutrophils
Frequent (30-79%)HP:0001874
Decreased serum immunoglobulin
Frequent (30-79%)HP:0004313
Immune deficiency
Frequent (30-79%)HP:0002721
Leukopenia
Frequent (30-79%)HP:0001882
Low platelet count
Frequent (30-79%)HP:0001873
Lymph node hyperplasia
Frequent (30-79%)HP:0002716
Reduced tendon reflexes
Frequent (30-79%)HP:0001315
Abnormality of movement
Occasional (5-29%)HP:0100022
Abnormality of the eyebrow
Occasional (5-29%)HP:0000534
Abnormality of the eyelashes
Occasional (5-29%)HP:0000499
Ataxia
Occasional (5-29%)HP:0001251
Bifid skull
Occasional (5-29%)HP:0002084
Central hypotonia
Occasional (5-29%)HP:0001252
Cranial nerve paralysis
Occasional (5-29%)HP:0006824
Decreased body height
Occasional (5-29%)HP:0004322
Dependant oedema
Occasional (5-29%)HP:0010741
Enlarged liver
Occasional (5-29%)HP:0002240
Epilepsy
Occasional (5-29%)HP:0001250
Hepatitis
Occasional (5-29%)HP:0012115
Hypoplastic bone marrow
Occasional (5-29%)HP:0005528
Infantile hypertrophic pyloric stenosis
Occasional (5-29%)HP:0002021
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Iris hypopigmentation
Occasional (5-29%)HP:0007730
Large spleen
Occasional (5-29%)HP:0001744

Related Conditions

Griscelli syndrome type 1(child)
Griscelli syndrome type 3(child)
Immunodeficiency associated with multiple organ system abnormalities(parent)
Congenital immunodeficiency disease(parent)
Disturbance of tyrosine metabolism(parent)
Congenital malformation(parent)
Disorder of pigmentation(parent)

Quick Facts

SNOMED CT
37548006
UMLS CUI
C0398794
Fully Specified Name
Hypopigmentation-immunodeficiency disease (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
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.