Urban Rifkin Davis syndrome

disorder

SNOMED 784349004CUI C2750804

Overview

Urban Rifkin Davis 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.

Increased distance between eyes

Always present (100%)HP:0000316

Increased length of philtrum

Always present (100%)HP:0000343

Increased width of bridge of nose

Always present (100%)HP:0000431

Joint ligamentous laxity

Always present (100%)HP:0001382

Loose skin

Always present (100%)HP:0000973

Multiple bladder diverticula

Always present (100%)HP:0012619

Pulmonary emphysema

Always present (100%)HP:0002097

Retarded growth

Always present (100%)HP:0001510

Central hypotonia

Frequent (30-79%)HP:0001252

Feeding difficulties

Frequent (30-79%)HP:0011968

Floppy windpipe

Frequent (30-79%)HP:0002779

Hydronephrosis

Frequent (30-79%)HP:0000126

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Infantile hypertrophic pyloric stenosis

Frequent (30-79%)HP:0002021

Inguinal hernia

Frequent (30-79%)HP:0000023

Large, late-closing fontanelle

Frequent (30-79%)HP:0000239

Loose redundant skin

Frequent (30-79%)HP:0001582

PFO

Frequent (30-79%)HP:0001655

Pulmonary atelectasis

Frequent (30-79%)HP:0100750

Retrognathia

Frequent (30-79%)HP:0000278

Space between great toe and second toe

Frequent (30-79%)HP:0001852

Umbilical hernia

Frequent (30-79%)HP:0001537

Accessory spleen

Occasional (5-29%)HP:0001747

Adrenal hypoplasia

Occasional (5-29%)HP:0000835

Ascites

Occasional (5-29%)HP:0001541

Bronchomalacia

Occasional (5-29%)HP:0002780

Feet or buttocks of fetus positioned near opening of uterus

Occasional (5-29%)HP:0001623

Flat midface

Occasional (5-29%)HP:0011800

Gastroesophageal reflux disease

Occasional (5-29%)HP:0002020

Hoarse cry

Occasional (5-29%)HP:0001615

Related Conditions

Cutis laxa, autosomal recessive(parent)

Fetal and/or neonatal disorder of integument(parent)

Quick Facts

SNOMED CT: 784349004
UMLS CUI: C2750804
Fully Specified Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (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.