X-linked reticulate pigmentary disorder with systemic manifestation syndrome

disorder

SNOMED 717224002CUI C1845050

Overview

X-linked reticulate pigmentary disorder with systemic manifestation 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.

Failure to thrive in first year of life

Always present (100%)HP:0001531

Increased vertical thickness of eyebrow

Always present (100%)HP:0011229

Multiple pulmonary infections

Always present (100%)HP:0006532

Photophobia

Always present (100%)HP:0000613

Reticular hyperpigmentation

Always present (100%)HP:0007588

Bronchiectasis

Very frequent (80-99%)HP:0002110

Chronic diarrhoea

Frequent (30-79%)HP:0002028

Colitis

Frequent (30-79%)HP:0002583

Corneal scarring

Frequent (30-79%)HP:0000559

Decreased sweating

Frequent (30-79%)HP:0000966

Urethral stricture

Frequent (30-79%)HP:0012227

Cognitive delay

Occasional (5-29%)HP:0001263

Cutis marmorata

Occasional (5-29%)HP:0000965

Digital clubbing

Occasional (5-29%)HP:0001217

Mental-retardation

Occasional (5-29%)HP:0001249

Cutaneous amyloidosis

HP:0012309

Epidermal hyperkeratosis

HP:0000962

Frontal upsweep of hair

HP:0002236

Generalized reticulate brown pigmentation

HP:0007599

Increased circulating interleukin 8 concentration

HP:0033178

Poor vision

HP:0000505

Reduced circulating interferon gamma concentration

HP:0033253

Visual loss

HP:0000572

Related Conditions

Hereditary disorder of the integument(parent)

Genetic disorder of skin pigmentation(parent)

X-linked dominant hereditary disease(parent)

Hyperpigmentation of skin(parent)

Type I interferonopathy(parent)

Hereditary disorder of immune system(parent)

Quick Facts

SNOMED CT: 717224002
UMLS CUI: C1845050
Fully Specified Name: X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.