Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

disorder

SNOMED 1222710008CUI C4225274

Overview

Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal 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.

Feeding difficulties

Always present (100%)HP:0011968

Mental and motor retardation

Always present (100%)HP:0001263

Sacral dimple

Always present (100%)HP:0000960

Thickened skin folds of neck

Always present (100%)HP:0000474

Cardiac anomaly

Very frequent (80-99%)HP:0001627

Coarse face

Very frequent (80-99%)HP:0000280

Delayed language development

Very frequent (80-99%)HP:0000750

Genitourinary disease

Very frequent (80-99%)HP:0000119

Helix abnormal

Very frequent (80-99%)HP:0011039

Hydronephrosis

Very frequent (80-99%)HP:0000126

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Muscular hypotonia

Very frequent (80-99%)HP:0001252

No development of motor milestones

Very frequent (80-99%)HP:0001270

Problems speaking

Very frequent (80-99%)HP:0002465

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Wide palpebral fissure

Very frequent (80-99%)HP:0000637

2 vessel cord

Frequent (30-79%)HP:0001195

Abnormal formation of the hip

Frequent (30-79%)HP:0001385

Abnormal four chamber view

Frequent (30-79%)HP:4000105

Abnormal spinal segmentation

Frequent (30-79%)HP:0003422

Accessory nipples

Frequent (30-79%)HP:0002558

Autonomic dysregulation

Frequent (30-79%)HP:0012332

Bifid tip of nose

Frequent (30-79%)HP:0000456

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

CKD

Frequent (30-79%)HP:0012622

Cleft of palate

Frequent (30-79%)HP:0000175

Constipation

Frequent (30-79%)HP:0002019

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased size of cranium

Frequent (30-79%)HP:0000252

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital heart disease(parent)

Global developmental delay(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Congenital anomaly of brain(parent)

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

Congenital anomaly of musculoskeletal system(parent)

Genetic intellectual disability(parent)

Abnormality of skeleton morphology(parent)

Quick Facts

SNOMED CT: 1222710008
UMLS CUI: C4225274
Fully Specified Name: Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal 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.