Congenital cataract with hypertrichosis and intellectual disability syndrome

disorder

SNOMED 722379001CUI C0796282

Overview

Congenital cataract with hypertrichosis and intellectual disability 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 palate morphology

Very frequent (80-99%)HP:0000174

Cataract, congenital

Very frequent (80-99%)HP:0000519

Concave bridge of nose

Very frequent (80-99%)HP:0005280

Generalized hirsutism

Very frequent (80-99%)HP:0002230

Low intelligence

Very frequent (80-99%)HP:0001249

Low posterior hair line

Very frequent (80-99%)HP:0002162

Pectus excavatum

Very frequent (80-99%)HP:0000767

Tooth hypoplasia

Very frequent (80-99%)HP:0000691

Generalized hypertrichosis

HP:0004554

Lamellar cataract

HP:0007971

Related Conditions

Congenital hypertrichosis(parent)

Congenital cataract(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722379001
UMLS CUI: C0796282
Fully Specified Name: Congenital cataract with hypertrichosis and intellectual disability 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.