Progeroid features, hepatocellular carcinoma predisposition syndrome

disorder

SNOMED 1216939003CUI C4015461

Overview

Progeroid features, hepatocellular carcinoma predisposition 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.

Decreased body weight

Always present (100%)HP:0004325

Delayed skeletal development

Always present (100%)HP:0002750

Hypoplastic mandible condyle

Always present (100%)HP:0000347

Inability to make and keep healthy fat tissue

Always present (100%)HP:0009125

Increased incidence of hepatocellular carcinoma

Always present (100%)HP:0001402

Inverted triangular face

Always present (100%)HP:0000325

Neurogenic muscle atrophy, especially in the lower limbs

Always present (100%)HP:0003202

Single flexion crease

Always present (100%)HP:0000954

Decreased body height

Frequent (30-79%)HP:0004322

Lens opacities

Frequent (30-79%)HP:0000518

Premature graying of the hair

Frequent (30-79%)HP:0002216

Clinodactyly

HP:0030084

Decreased activity of gonads

Excluded (<1%)HP:0000135

Fallen arches

HP:0001763

Fixed flexion at the elbow joint

HP:0002987

Frontal protuberance

HP:0002007

Hypotrichosis

Excluded (<1%)HP:0008070

Osteoporosis

Excluded (<1%)HP:0000939

Pectus excavatum

HP:0000767

Posterior subcapsular cataracts

HP:0007787

Potato nose

HP:0000414

Prominent nasal root

HP:0000426

Sloping shoulders

HP:0200021

Thoracic kyphoscoliosis

HP:0005659

Related Conditions

Premature ageing syndrome(parent)

Hereditary neoplastic syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1216939003
UMLS CUI: C4015461
Fully Specified Name: Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.