Splenogonadal fusion, limb defect, micrognathia syndrome

disorder

SNOMED 726724005CUI C1866745

Overview

Splenogonadal fusion, limb defect, micrognathia 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 fibula morphology

Very frequent (80-99%)HP:0002991

Abnormal formation of the hip

Very frequent (80-99%)HP:0001385

Abnormality of the arm

Very frequent (80-99%)HP:0002817

Abnormality of the knee

Very frequent (80-99%)HP:0002815

Abnormality of the thighbone

Very frequent (80-99%)HP:0002823

Abnormality of the wrist

Very frequent (80-99%)HP:0003019

Dermatopathy

Very frequent (80-99%)HP:0000951

Inguinal hernia

Very frequent (80-99%)HP:0000023

Premature birth

Very frequent (80-99%)HP:0001622

Cryptorchidism

Frequent (30-79%)HP:0000028

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Left and right leg differ in length or width

Frequent (30-79%)HP:0100559

Unequal size of arms

Frequent (30-79%)HP:0100560

Abnormal palate morphology

Occasional (5-29%)HP:0000174

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormality of neuronal migration

Occasional (5-29%)HP:0002269

Absent/small lungs

Occasional (5-29%)HP:0006703

Anal atresia

Occasional (5-29%)HP:0002023

Crowded maxillary incisors

Occasional (5-29%)HP:0006333

Dental agenesis

Occasional (5-29%)HP:0009804

Diaphragmatic hernia

Occasional (5-29%)HP:0000776

Failure of eruption of multiple teeth

Occasional (5-29%)HP:0006283

Flattening of cranial vault

Occasional (5-29%)HP:0001357

Intellectual impairment

Occasional (5-29%)HP:0100543

Lung segmentation defects

Occasional (5-29%)HP:0002101

Narrow palate

Occasional (5-29%)HP:0000189

Posteriorly angulated ears

Occasional (5-29%)HP:0000358

Seizures

Occasional (5-29%)HP:0001250

Urogenital abnormalities

HP:0000119

Related Conditions

Autosomal dominant hereditary disorder(parent)

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

Congenital micrognathism(parent)

Splenogonadal fusion(parent)

Longitudinal deficiency of limb(parent)

Dysostosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 726724005
UMLS CUI: C1866745
Fully Specified Name: Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.