Intellectual disability, developmental delay, contracture syndrome

disorder

SNOMED 722456001CUI C0796200

Overview

Intellectual disability, developmental delay, contracture 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.

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Abnormality of movement

Very frequent (80-99%)HP:0100022

Congenital foot contractures

Very frequent (80-99%)HP:0005745

Distal muscle atrophy, upper and lower limbs

Very frequent (80-99%)HP:0003693

Eye movement issue

Very frequent (80-99%)HP:0000496

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Permanent curving of the pinkie finger

Very frequent (80-99%)HP:0004209

Eye drop

Occasional (5-29%)HP:0000508

Oculomotor apraxia

Occasional (5-29%)HP:0000657

Squint

Occasional (5-29%)HP:0000486

Absent tendon reflexes

HP:0001284

Apnea

HP:0002104

Apraxia

HP:0002186

Arthrogryposis multiplex

HP:0002804

Attachment of thumb close to wrist

HP:0009623

Broad alveolar processes of jaw

HP:0000187

Camptodactyly

HP:0012385

Carp-shaped mouth

HP:0010806

Cognitive delay

HP:0001263

Decreased body height

HP:0004322

Decreased fetal movement

HP:0001558

Decreased projection of mandible

HP:0000347

Decreased size of cranium

HP:0000252

Degeneration of cerebrum

HP:0002059

Delayed myelination

HP:0012448

Dislocated femoral heads

HP:0002827

Drooling

HP:0002307

Dystonic movements

HP:0001332

Facial muscle weakness of muscles innervated by CN VII

HP:0010628

Related Conditions

Inherited arthrogryposis(parent)

Amyotrophia(parent)

Congenital anomaly of skeletal muscle(parent)

X-linked recessive hereditary disease(parent)

Arthrogryposis multiplex congenita(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722456001
UMLS CUI: C0796200
Fully Specified Name: Intellectual disability, developmental delay, contracture 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.