Hypospadias and intellectual disability syndrome Goldblatt type

disorder

SNOMED 716096005CUI C4274844

Overview

Hypospadias and intellectual disability syndrome Goldblatt type 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.

Central hypotonia

Very frequent (80-99%)HP:0001252

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Hypospadias

Very frequent (80-99%)HP:0000047

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Stiff joint

Very frequent (80-99%)HP:0001387

Abnormal palate morphology

Frequent (30-79%)HP:0000174

Abnormal toenail morphology

Frequent (30-79%)HP:0008388

Abnormality of the fingernails

Frequent (30-79%)HP:0001231

Flat midface

Frequent (30-79%)HP:0011800

Hooked nose

Frequent (30-79%)HP:0000444

Overfolded helix

Frequent (30-79%)HP:0000396

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Unibrow

Frequent (30-79%)HP:0000664

Wedge shaped head

Frequent (30-79%)HP:0000243

Curvature of little finger

Occasional (5-29%)HP:0004209

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the urinary system(parent)

Hypospadias(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 716096005
UMLS CUI: C4274844
Fully Specified Name: Hypospadias and intellectual disability syndrome Goldblatt type (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.