Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

disorder

SNOMED 702407009CUI C0948368

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hydrometrocolpos

Very frequent (80-99%)HP:0030010

Cryptorchidism

Frequent (30-79%)HP:0000028

Glanular hypospadias

Frequent (30-79%)HP:0000807

Hydronephrosis

Frequent (30-79%)HP:0000126

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Urogenital sinus anomaly

Frequent (30-79%)HP:0100779

Abnormal metacarpal morphology

Occasional (5-29%)HP:0005916

Absent anus

Occasional (5-29%)HP:0002023

Aganglionic megacolon

Occasional (5-29%)HP:0002251

Atria septal defect

Occasional (5-29%)HP:0001631

Brachydactyly

Occasional (5-29%)HP:0001156

Cleft of palate

Occasional (5-29%)HP:0000175

Decreased body height

Occasional (5-29%)HP:0004322

Dull intelligence

Occasional (5-29%)HP:0001249

Ectopic anus

Occasional (5-29%)HP:0004397

Fibular polydactyly

Occasional (5-29%)HP:0001830

High arched palate

Occasional (5-29%)HP:0000218

Left ventricular hypoplasia

Occasional (5-29%)HP:0004383

Multicystic kidney dysplasia

Occasional (5-29%)HP:0000003

Partial syndactyly

Occasional (5-29%)HP:0006101

PDA

Occasional (5-29%)HP:0001643

Poor weight gain

Occasional (5-29%)HP:0001508

Psychomotor development deficiency

Occasional (5-29%)HP:0001263

Tarsal bone synostosis

Occasional (5-29%)HP:0008368

Tetrology of fallot

Occasional (5-29%)HP:0001636

Urethral stricture

Occasional (5-29%)HP:0012227

VSD

Occasional (5-29%)HP:0001629

Renal hypoplasia/aplasia

Very rare (1-4%)HP:0008678

Abnormality of cardiovascular system morphology

HP:0030680

Abnormally closed or absent vagina

HP:0000148

Related Conditions

Accessory digit(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Reproductive system hereditary disorder(parent)

Congenital malformation of genital organs(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 702407009
UMLS CUI: C0948368
Fully Specified Name: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.