Biemond syndrome type 2

disorder

SNOMED 717887003CUI C1859487

Overview

Biemond syndrome type 2 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.

Abnormally small eyeball

Very frequent (80-99%)HP:0000568

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased body height

Very frequent (80-99%)HP:0004322

Delayed puberty

Very frequent (80-99%)HP:0000823

Hypospadias

Very frequent (80-99%)HP:0000047

Low gonadotropins (secondary hypogonadism)

Very frequent (80-99%)HP:0000044

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Notched pupil

Very frequent (80-99%)HP:0000589

Obesity

Very frequent (80-99%)HP:0001513

Polydactyly, preaxial

Very frequent (80-99%)HP:0100258

Poor school performance

Very frequent (80-99%)HP:0001249

Treacher Collins syndrome

Very frequent (80-99%)HP:0005321

Abnormality of the endocrine system

HP:0000818

Iris coloboma

HP:0000612

Preaxial hand polydactyly

HP:0001177

Related Conditions

Multiple system malformation syndrome(parent)

Small stature(parent)

Congenital coloboma of iris(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 717887003
UMLS CUI: C1859487
Fully Specified Name: Biemond syndrome type 2 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.