Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome

disorder

SNOMED 1237342004CUI C4015701

Overview

Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia 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.

Arthrogryposis multiplex

Always present (100%)HP:0002804

Decreased size of cranium

Always present (100%)HP:0000252

Intrauterine growth retardation, IUGR

Always present (100%)HP:0001511

Small cerebellum

Always present (100%)HP:0001321

Small cerebrum

Always present (100%)HP:0006872

Underdeveloped uterus

Always present (100%)HP:0000013

Abnormally closed or absent vagina

Frequent (30-79%)HP:0000148

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Arrhinencephaly

Frequent (30-79%)HP:0002139

Bilateral renal agenesis

Frequent (30-79%)HP:0010958

Cerebellar vermis aplasia

Frequent (30-79%)HP:0002335

Decreased amniotic fluid index

Frequent (30-79%)HP:0001562

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Hypoplasia of the ureter

Frequent (30-79%)HP:0032464

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Low-set ears

Frequent (30-79%)HP:0000369

Nostrils anteverted

Frequent (30-79%)HP:0000463

Rocker bottom feet

Frequent (30-79%)HP:0001838

Sloping forehead

Frequent (30-79%)HP:0000340

Small kidneys

Frequent (30-79%)HP:0000089

Uvula bifida

Frequent (30-79%)HP:0000193

Webbed elbow

Frequent (30-79%)HP:0009760

Related Conditions

Fetus with hereditary disease(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Hereditary nephropathy(parent)

Fetal microcephaly(parent)

Anomaly of foetal kidney(parent)

Multiple anomalies of foetus(parent)

Encephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Fetal malformation of central nervous system(parent)

Quick Facts

SNOMED CT: 1237342004
UMLS CUI: C4015701
Fully Specified Name: Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.