Tall stature, intellectual disability, renal anomalies syndrome

disorder

SNOMED 1169359006CUI C4310715

Overview

Tall stature, intellectual disability, renal anomalies 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.

Bifid ureter

Always present (100%)HP:0030037

Cognitive delay

Always present (100%)HP:0001263

Dependant oedema

Always present (100%)HP:0010741

General overgrowth

Always present (100%)HP:0001548

Lingual hyperplasia

Always present (100%)HP:0000158

VSD

Always present (100%)HP:0001629

Abnormal rotation of the kidneys

Frequent (30-79%)HP:0004712

Big calvaria

Frequent (30-79%)HP:0000256

Camptodactyly

Frequent (30-79%)HP:0012385

Chronic neutropenia

Frequent (30-79%)HP:0410252

Deformity of face

Frequent (30-79%)HP:0001999

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Fetal macrosomia

Frequent (30-79%)HP:0001520

Hole in the back of the eye

Frequent (30-79%)HP:0000480

Mitral valve prolapse

Frequent (30-79%)HP:0001634

Poor school performance

Frequent (30-79%)HP:0001249

Prominent lips

Frequent (30-79%)HP:0012471

Proportionate tall stature

Frequent (30-79%)HP:0011407

Specific learning disability

Frequent (30-79%)HP:0001328

Transiently decreased total neutrophil count

Frequent (30-79%)HP:0410255

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormal femoral torsion

Occasional (5-29%)HP:0031069

Abnormality of the thumbs

Occasional (5-29%)HP:0001172

Bowed lower limbs

Occasional (5-29%)HP:0002979

Cataract

Occasional (5-29%)HP:0000518

Disproportionately large hands

Occasional (5-29%)HP:0001176

Dropped arches

Occasional (5-29%)HP:0001763

Enlarged kidney

Occasional (5-29%)HP:0000105

Fetal foot inversion

Occasional (5-29%)HP:0001762

Hypotrophic midface

Occasional (5-29%)HP:0011800

Related Conditions

Disorder of stature(parent)

Developmental hereditary disorder(parent)

Multiple malformation syndrome with early overgrowth(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1169359006
UMLS CUI: C4310715
Fully Specified Name: Tall stature, intellectual disability, renal anomalies 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.