XY type gonadal dysgenesis with associated anomalies syndrome

disorder

SNOMED 733605002CUI C1856272

Overview

XY type gonadal dysgenesis with associated anomalies 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 distribution of hair

Very frequent (80-99%)HP:0010720

Abnormality of the ureter

Very frequent (80-99%)HP:0000069

Absent external auditory canals

Very frequent (80-99%)HP:0000413

Bilateral single transverse palmar creases

Very frequent (80-99%)HP:0007598

Brachydactyly

Very frequent (80-99%)HP:0001156

Broad thumbs

Very frequent (80-99%)HP:0011304

Decreased width of the skull

Very frequent (80-99%)HP:0004422

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Disproportionately large hands

Very frequent (80-99%)HP:0001176

Gonadal dysgenesis

Very frequent (80-99%)HP:0000133

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Polycystic ovary disease

Very frequent (80-99%)HP:0000147

Preauricular earpits

Very frequent (80-99%)HP:0004467

Psychomotor retardation, mild

Very frequent (80-99%)HP:0011342

Umbilical hernia

Very frequent (80-99%)HP:0001537

VSD

Very frequent (80-99%)HP:0001629

Abnormality of the philtrum

Frequent (30-79%)HP:0000288

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased body height

Frequent (30-79%)HP:0004322

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Hypoplasia of columella

Frequent (30-79%)HP:0002000

Microtia

Frequent (30-79%)HP:0008551

Non-midline cleft of the upper lip

Frequent (30-79%)HP:0100335

Palpebronasal fold

Frequent (30-79%)HP:0000286

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Renal hypoplasia/aplasia

Frequent (30-79%)HP:0008678

Related Conditions

Cleft palate with cleft lip(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Pure gonadal dysgenesis 46,XY(parent)

Digestive system hereditary disorder(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 733605002
UMLS CUI: C1856272
Fully Specified Name: XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.