Hoyeraal-Hreidarsson syndrome

disorder

SNOMED 707276009CUI C1846142

Overview

Hoyeraal-Hreidarsson 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.

Reticular pigmentation pattern

Always present (100%)HP:0007427

Decreased body height

Very frequent (80-99%)HP:0004322

Immune deficiency

Very frequent (80-99%)HP:0002721

Low platelet count

Very frequent (80-99%)HP:0001873

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Skin degeneration

Very frequent (80-99%)HP:0004334

Small cerebellum

Very frequent (80-99%)HP:0001321

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Undergrowth

Very frequent (80-99%)HP:0001508

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Dystrophic nails

Frequent (30-79%)HP:0008404

Excessive wrinkled skin

Frequent (30-79%)HP:0007392

Generalised hyperpigmentation

Frequent (30-79%)HP:0007440

Generalised hypopigmentation of hair

Frequent (30-79%)HP:0011358

Haemorrhagic disorders

Frequent (30-79%)HP:0001928

Oral white plaque

Frequent (30-79%)HP:0002745

Oropharyngeal squamous cell carcinoma

Frequent (30-79%)HP:0012182

Premature graying of the hair

Frequent (30-79%)HP:0002216

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Thinning scalp hair

Frequent (30-79%)HP:0002209

Abnormal deposits of calcium in the brain

Occasional (5-29%)HP:0002514

Abnormality of leukocytes

Occasional (5-29%)HP:0001881

Ataxia

Occasional (5-29%)HP:0001251

Hyporeflexia

Occasional (5-29%)HP:0001265

Oncology

Occasional (5-29%)HP:0002664

Acute myeloid leukaemia

HP:0004808

Anal mucosal leukoplakia

HP:0005212

Carcinoma

HP:0030731

Cataract

HP:0000518

Related Conditions

X-linked dyskeratosis congenita(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 707276009
UMLS CUI: C1846142
Fully Specified Name: Hoyeraal-Hreidarsson syndrome (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.