Amaurosis hypertrichosis syndrome

disorder

SNOMED 720983002CUI C4303739

Overview

Amaurosis hypertrichosis 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.

Abnormality of the eyelashes

Very frequent (80-99%)HP:0000499

Breakdown of light-sensitive cells in back of eye

Very frequent (80-99%)HP:0000556

Coarse hair texture

Very frequent (80-99%)HP:0002208

Cone-rod retinal dystrophy

Very frequent (80-99%)HP:0000548

High-grade hypermetropia

Very frequent (80-99%)HP:0008499

Impaired vision

Very frequent (80-99%)HP:0000505

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Optic atrophy

Very frequent (80-99%)HP:0000648

Photophobia

Very frequent (80-99%)HP:0000613

Thick eyebrow

Very frequent (80-99%)HP:0000574

Unibrow

Very frequent (80-99%)HP:0000664

Related Conditions

Hereditary retinal dystrophy(parent)

Congenital hypertrichosis(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Congenital anomaly of retina(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720983002
UMLS CUI: C4303739
Fully Specified Name: Amaurosis hypertrichosis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.