Deafness, enamel hypoplasia, nail defect syndrome

disorder

SNOMED 721085000CUI C1856186

Overview

Deafness, enamel hypoplasia, nail defect 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.

Amelogenesis imperfecta

Always present (100%)HP:0000705

Enamel, underdeveloped

Always present (100%)HP:0006297

Abnormal hair quantity

Very frequent (80-99%)HP:0011362

Abnormal nasolacrimal system morphology

Very frequent (80-99%)HP:0000614

Abnormal toenail morphology

Very frequent (80-99%)HP:0008388

Abnormal tooth enamel

Very frequent (80-99%)HP:0000682

Abnormality of nail color

Very frequent (80-99%)HP:0100643

Abnormality of the eyebrow

Very frequent (80-99%)HP:0000534

Abnormality of the eyelids

Very frequent (80-99%)HP:0000492

Abnormality of the fingernails

Very frequent (80-99%)HP:0001231

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Dental anomalies

Very frequent (80-99%)HP:0000164

Diabetes mellitus

Very frequent (80-99%)HP:0000819

Hypoacusis

Very frequent (80-99%)HP:0000365

Hypogenitalism

Very frequent (80-99%)HP:0003241

Low intelligence

Very frequent (80-99%)HP:0001249

Pili torti

Very frequent (80-99%)HP:0003777

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Taurodont

Very frequent (80-99%)HP:0000679

Thin eyebrow

Very frequent (80-99%)HP:0045074

Abnormal heart rate

Frequent (30-79%)HP:0011675

Decreased body height

Frequent (30-79%)HP:0004322

Disproportionately large hands

Frequent (30-79%)HP:0001176

Ladder nail

Frequent (30-79%)HP:0041093

Primary amenorrhea

Frequent (30-79%)HP:0000786

Round, full face

Frequent (30-79%)HP:0000311

RPE irregularity

Frequent (30-79%)HP:0007814

Abnormal deposits of calcium in the brain

Occasional (5-29%)HP:0002514

Acanthosis nigricans

Occasional (5-29%)HP:0000956

High frontal hairline

Occasional (5-29%)HP:0009890

Related Conditions

Enamel hypoplasia(parent)

Sensorineural hearing loss(parent)

Hearing loss associated with syndrome(parent)

Ectodermal dysplasia with tooth-nail defects(parent)

Hereditary disorder of the integument(parent)

Genetic disorder of nail(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Peroxisome biogenesis disorder spectrum(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 721085000
UMLS CUI: C1856186
Fully Specified Name: Deafness, enamel hypoplasia, nail defect syndrome (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.