Microcephalus co-occurrent with cervical spine fusion anomaly

disorder

SNOMED 715462003CUI C0796066

Overview

Microcephalus co-occurrent with cervical spine fusion anomaly 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.

Abnormality of reticulocytes

Very frequent (80-99%)HP:0004312

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Fused neck

Very frequent (80-99%)HP:0002949

Hooked nose

Very frequent (80-99%)HP:0000444

Hunched back

Very frequent (80-99%)HP:0002808

Hyperplasia of malar bones

Very frequent (80-99%)HP:0010620

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Low-set ears

Very frequent (80-99%)HP:0000369

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Midfacial prominence

Very frequent (80-99%)HP:0012371

Pectus excavatum

Very frequent (80-99%)HP:0000767

Prominent swayback

Very frequent (80-99%)HP:0003307

Protruding eyes

Very frequent (80-99%)HP:0000520

Rib anomalies

Very frequent (80-99%)HP:0000772

Sloping forehead

Very frequent (80-99%)HP:0000340

Spinal cord compression

Very frequent (80-99%)HP:0002176

Abnormal clavicles

Frequent (30-79%)HP:0000889

Abnormal vocalization

Frequent (30-79%)HP:0002167

Abnormality of the hips

Frequent (30-79%)HP:0003272

Abnormality of the ureter

Frequent (30-79%)HP:0000069

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hypospadias

Frequent (30-79%)HP:0000047

Increased reflexes

Frequent (30-79%)HP:0001347

Misshapened teeth

Frequent (30-79%)HP:0006482

Short neck

Frequent (30-79%)HP:0000470

Low intelligence

HP:0001249

Spinal instability

HP:0005881

Vertebral body fusion

HP:0002948

Related Conditions

Congenital fusion of spine(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of cervical vertebra(parent)

Lesion of neck(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

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

Quick Facts

SNOMED CT: 715462003
UMLS CUI: C0796066
Fully Specified Name: Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.