Progeroid short stature with pigmented naevi

disorder

SNOMED 399947002CUI C1261128

Overview

Progeroid short stature with pigmented naevi 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.

Abnormal muscle tone

Very frequent (80-99%)HP:0003808

Abnormal thalamus morphology

Very frequent (80-99%)HP:0010663

Agenesis of a tooth

Very frequent (80-99%)HP:0001592

Band keratopathy

Very frequent (80-99%)HP:0000585

Bird-like facial appearance

Very frequent (80-99%)HP:0000320

Brachydactyly

Very frequent (80-99%)HP:0001156

Cataract

Very frequent (80-99%)HP:0000518

Central sleep apnea

Very frequent (80-99%)HP:0010536

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased serum estradiol

Very frequent (80-99%)HP:0008214

Decreased serum testosterone level

Very frequent (80-99%)HP:0040171

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased visual acuity, progressive

Very frequent (80-99%)HP:0000529

Delayed puberty

Very frequent (80-99%)HP:0000823

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Elevated serum transaminases

Very frequent (80-99%)HP:0002910

Enamel with tendency to chip

Very frequent (80-99%)HP:0025124

Fatty liver

Very frequent (80-99%)HP:0001397

Fragmented sleep

Very frequent (80-99%)HP:0100785

Gastro-esophageal reflux

Very frequent (80-99%)HP:0002020

Hair loss

Very frequent (80-99%)HP:0001596

High pitched voice

Very frequent (80-99%)HP:0001620

Hyperpigmented nevi

Very frequent (80-99%)HP:0007481

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Immune deficiency

Very frequent (80-99%)HP:0002721

Insulin-resistant diabetes

Very frequent (80-99%)HP:0000831

Intellectual impairment

Very frequent (80-99%)HP:0100543

Lack of facial subcutaneous fat

Very frequent (80-99%)HP:0005320

Low birth weight

Very frequent (80-99%)HP:0001518

Low posterior hair line

Very frequent (80-99%)HP:0002162

Related Conditions

Premature ageing syndrome(parent)

Quick Facts

SNOMED CT: 399947002
UMLS CUI: C1261128
Fully Specified Name: Progeroid short stature with pigmented nevi (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.