Cerebellar ataxia co-occurrent with ectodermal dysplasia

disorder

SNOMED 715371006CUI C1859306

Overview

Cerebellar ataxia co-occurrent with ectodermal dysplasia 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.

Ataxia

Very frequent (80-99%)HP:0001251

Fine hair

Very frequent (80-99%)HP:0002213

Gait disturbance

Very frequent (80-99%)HP:0001288

Inverted triangular face

Very frequent (80-99%)HP:0000325

Missing between one and six teeth

Very frequent (80-99%)HP:0000668

Thin, sparse hair

Very frequent (80-99%)HP:0008070

Tooth hypoplasia

Very frequent (80-99%)HP:0000691

Abnormal vocalization

Frequent (30-79%)HP:0002167

Cryptorchidism

Frequent (30-79%)HP:0000028

Increased width of the forehead

Frequent (30-79%)HP:0000337

Inguinal hernia

Frequent (30-79%)HP:0000023

Pes cavus

Frequent (30-79%)HP:0001761

Related Conditions

Ectodermal dysplasia(parent)

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Hereditary ataxia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715371006
UMLS CUI: C1859306
Fully Specified Name: Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.