Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome

disorder

SNOMED 719910004CUI C1860605

Overview

Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly 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 RPE

Very frequent (80-99%)HP:0007703

Brachydactyly

Very frequent (80-99%)HP:0001156

Dental anomalies

Very frequent (80-99%)HP:0000164

Juvenile cataract

Very frequent (80-99%)HP:0001118

Thin, sparse hair

Very frequent (80-99%)HP:0008070

Uncombable hair

Very frequent (80-99%)HP:0030056

Abnormal hands

Frequent (30-79%)HP:0001155

Increased tooth count

Frequent (30-79%)HP:0011069

Partial anodontia

Frequent (30-79%)HP:0000677

Short 5th metacarpal

Occasional (5-29%)HP:0010047

Related Conditions

Autosomal dominant hereditary disorder(parent)

Ectodermal dysplasia with hair-tooth defects(parent)

Hereditary disorder of the integument(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Quick Facts

SNOMED CT: 719910004
UMLS CUI: C1860605
Fully Specified Name: Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.