Autosomal dominant palmoplantar keratoderma and congenital alopecia

disorder

SNOMED 719518004CUI C4304669

Overview

Autosomal dominant palmoplantar keratoderma and congenital alopecia 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.

Brittle hair

Always present (100%)HP:0002299

Epidermal hyperkeratosis

Always present (100%)HP:0000962

Hair loss

Always present (100%)HP:0001596

Hypotrichosis

Always present (100%)HP:0008070

Nail dysplasia

Always present (100%)HP:0002164

Palmoplantar erythema

Always present (100%)HP:0025493

Patchy darkened skin

Always present (100%)HP:0000953

Plantar hyperkeratosis

Always present (100%)HP:0007556

White discoloration of nails

Always present (100%)HP:0001820

Abnormal nail morphology

Very frequent (80-99%)HP:0001597

Dystrophic nails

Very frequent (80-99%)HP:0008404

Keratoderma

Very frequent (80-99%)HP:0000982

Sparse eyebrow

Very frequent (80-99%)HP:0045075

Thin eyelashes

Very frequent (80-99%)HP:0000653

Thinning scalp hair

Very frequent (80-99%)HP:0002209

Digital constriction ring

Frequent (30-79%)HP:0010491

Flexion deformity of finger

Frequent (30-79%)HP:0012785

Generalised hypotrichosis

Frequent (30-79%)HP:0004528

Keratosis pilaris

Frequent (30-79%)HP:0032152

Longitudinal ridging

Frequent (30-79%)HP:0001807

Sclerodactyly

Frequent (30-79%)HP:0011838

Xerosis

Frequent (30-79%)HP:0000958

Absent hair

Occasional (5-29%)HP:0002298

Cracked skin

Occasional (5-29%)HP:0031057

Loss of eyebrows

Occasional (5-29%)HP:0002223

Meningocele

Occasional (5-29%)HP:0002435

Nuclear cataract

Occasional (5-29%)HP:0100018

Poor wound healing

Occasional (5-29%)HP:0001058

Red face

Occasional (5-29%)HP:0001041

Scaling skin

Occasional (5-29%)HP:0040189

Related Conditions

Congenital alopecia(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary palmoplantar keratoderma(parent)

Congenital ectodermal defect(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 719518004
UMLS CUI: C4304669
Fully Specified Name: Autosomal dominant palmoplantar keratoderma and congenital alopecia (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.