Growth delay, intellectual disability, hepatopathy syndrome

disorder

SNOMED 1186713004CUI C5568558

Overview

Growth delay, intellectual disability, hepatopathy 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.

Decreased serum zinc

Very frequent (80-99%)HP:0031831

Dull intelligence

Very frequent (80-99%)HP:0001249

Poor growth

Very frequent (80-99%)HP:0001510

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Subclinical abnormal liver function tests

Very frequent (80-99%)HP:0002910

Central hypotonia

Frequent (30-79%)HP:0001252

Fatty liver

Frequent (30-79%)HP:0001397

Feeding difficulties

Frequent (30-79%)HP:0011968

Liver fibrosis

Frequent (30-79%)HP:0001395

No speech development

Frequent (30-79%)HP:0001344

Predisposition to infections

Frequent (30-79%)HP:0002719

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Abnormality of vitamin D metabolism

Occasional (5-29%)HP:0100511

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Brain imaging abnormality

Occasional (5-29%)HP:0410263

Chubby cheeks

Occasional (5-29%)HP:0000293

Decreased size of cranium

Occasional (5-29%)HP:0000252

Dermal translucency

Occasional (5-29%)HP:0010648

Diabetes mellitus

Occasional (5-29%)HP:0000819

Drumstick shaped digital bones

Occasional (5-29%)HP:0006129

Duplicated collecting system

Occasional (5-29%)HP:0000081

Epilepsy

Occasional (5-29%)HP:0001250

Esophagitis

Occasional (5-29%)HP:0100633

Hepatic insufficiency

Occasional (5-29%)HP:0001399

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

Hydronephrosis

Occasional (5-29%)HP:0000126

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Joint ligamentous laxity

Occasional (5-29%)HP:0001382

Oligohydramnios

Occasional (5-29%)HP:0001562

Related Conditions

Neonatal disease(parent)

Hepatopathy(parent)

Developmental hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Growth retardation(parent)

Recessive hereditary disorder (autosomal)(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1186713004
UMLS CUI: C5568558
Fully Specified Name: Growth delay, intellectual disability, hepatopathy 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.