Intellectual disability, polydactyly, uncombable hair syndrome

disorder

SNOMED 763742008CUI C2931547

Overview

Intellectual disability, polydactyly, uncombable hair 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 antihelix morphology

Very frequent (80-99%)HP:0009738

Abnormal antitragus morphology

Very frequent (80-99%)HP:0009896

Abnormal palate morphology

Very frequent (80-99%)HP:0000174

Abnormality of immune system physiology

Very frequent (80-99%)HP:0010978

Abnormality of the hair shaft

Very frequent (80-99%)HP:0001595

Absence of eyebrow

Very frequent (80-99%)HP:0100840

Absent/small fingers

Very frequent (80-99%)HP:0006265

Absent/small toe

Very frequent (80-99%)HP:0001991

Absent/underdeveloped ear lobes

Very frequent (80-99%)HP:0009906

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Bilateral fifth digit clinodactyly

Very frequent (80-99%)HP:0004209

Broad bone of big toe

Very frequent (80-99%)HP:0010059

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Hernia of the abdominal wall

Very frequent (80-99%)HP:0004299

Hunched back

Very frequent (80-99%)HP:0002808

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Increased size of mandible

Very frequent (80-99%)HP:0000303

Metatarsus valgus

Very frequent (80-99%)HP:0010508

Mongoloid slant

Very frequent (80-99%)HP:0000582

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Ocular hypotelorism

Very frequent (80-99%)HP:0000601

Pectus carinatum

Very frequent (80-99%)HP:0000768

Pinched bridge of nose

Very frequent (80-99%)HP:0000446

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Rib anomalies

Very frequent (80-99%)HP:0000772

Short neck

Very frequent (80-99%)HP:0000470

Related Conditions

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

Accessory digit(parent)

Congenital anomaly of hair(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763742008
UMLS CUI: C2931547
Fully Specified Name: Intellectual disability, polydactyly, uncombable hair 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.