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Renal dysplasia with limb defect syndrome

disorder
SNOMED 719840003CUI C1849438

Overview

Renal dysplasia with limb defect 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.

2 vessel cord
Frequent (30-79%)HP:0001195
Abnormal external genitalia morphology
Frequent (30-79%)HP:0000811
Abnormality of forearm bone
Frequent (30-79%)HP:0040072
Abnormality of the penis
Frequent (30-79%)HP:0000036
Absent fibulae
Frequent (30-79%)HP:0002990
Birth length less than 3rd percentile
Frequent (30-79%)HP:0003561
Collapsed lung
Frequent (30-79%)HP:0002107
Concave bridge of nose
Frequent (30-79%)HP:0005280
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased amniotic fluid index
Frequent (30-79%)HP:0001562
Decreased volume of lip vermillion
Frequent (30-79%)HP:0000233
Dysplastic ears
Frequent (30-79%)HP:0000377
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Growth delay as children
Frequent (30-79%)HP:0008897
High arched palate
Frequent (30-79%)HP:0000218
Hooked nose
Frequent (30-79%)HP:0000444
Humeral hypoplasia
Frequent (30-79%)HP:0005792
Humeral radial synostosis
Frequent (30-79%)HP:0003041
Hypoplasia or unilateral/bilateral absence of ulna
Frequent (30-79%)HP:0006495
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Hypoplastic sternum
Frequent (30-79%)HP:0000879
Labia minora hypertrophy
Frequent (30-79%)HP:0008683
Laboured breathing
Frequent (30-79%)HP:0002098
Long upper lip
Frequent (30-79%)HP:0011341
Low-set ears
Frequent (30-79%)HP:0000369
Mesomelia
Frequent (30-79%)HP:0003027
Narrow mouth
Frequent (30-79%)HP:0000160
Ovoid thoracic and lumbar vertebrae
Frequent (30-79%)HP:0003309
Phocomelia
Frequent (30-79%)HP:0009829
Polycystic kidney dysplasia
Frequent (30-79%)HP:0000113

Related Conditions

Multiple malformation syndrome with facial-limb defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Renal dysplasia(parent)
Hereditary nephropathy(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
719840003
UMLS CUI
C1849438
Fully Specified Name
Renal dysplasia with limb defect syndrome (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.