Choroidal atrophy and alopecia syndrome

disorder

SNOMED 720850008CUI C2931026

Overview

Choroidal atrophy and alopecia 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.

Abnormal toenail morphology

Very frequent (80-99%)HP:0008388

Abnormality of the fingernails

Very frequent (80-99%)HP:0001231

Decreased hair growth

Very frequent (80-99%)HP:0008070

Ectodermal dysplasia

Very frequent (80-99%)HP:0000968

Fine hair

Very frequent (80-99%)HP:0002213

Impaired vision

Very frequent (80-99%)HP:0000505

Koenen's tumor

Very frequent (80-99%)HP:0100804

Retinal pigmentary anomaly

Very frequent (80-99%)HP:0007703

Sparse to absent eyelashes

Very frequent (80-99%)HP:0200102

Accessory nipples

Occasional (5-29%)HP:0002558

duplicated nail

Occasional (5-29%)HP:0010793

Glue ear

Occasional (5-29%)HP:0040262

Partial syndactyly

Occasional (5-29%)HP:0006101

Patchy atrophy of the retinal pigment epithelium

Occasional (5-29%)HP:0007791

Ridged fingernails

Occasional (5-29%)HP:0008402

Thin eyebrow

Occasional (5-29%)HP:0045074

Related Conditions

Congenital alopecia(parent)

Ectodermal dysplasia(parent)

Congenital anomaly of choroid(parent)

Choroidal degeneration(parent)

Atrophy of globe of eye(parent)

Quick Facts

SNOMED CT: 720850008
UMLS CUI: C2931026
Fully Specified Name: Choroidal atrophy and alopecia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.