Non-acquired combined pituitary hormone deficiency, deafness, rigid cervical spine syndrome

disorder

SNOMED 771308008CUI C4749825

Overview

Non-acquired combined pituitary hormone deficiency, deafness, rigid cervical spine 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 body height

Very frequent (80-99%)HP:0004322

Decreased response to growth hormone stimulation test

Very frequent (80-99%)HP:0000824

Dorsolumbar kyphosis

Very frequent (80-99%)HP:0003423

Hypoplasia of the pituitary gland

Very frequent (80-99%)HP:0010627

Hypothalamic luteinizing hormone-releasing hormone deficiency

Very frequent (80-99%)HP:0012287

Pituitary gonadotropin deficiency

Very frequent (80-99%)HP:0008213

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Short neck

Very frequent (80-99%)HP:0000470

TSH deficient hypothyroidism

Very frequent (80-99%)HP:0008245

ACTH deficiency

Occasional (5-29%)HP:0011748

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Disorder of vertebral column(parent)

Sensorineural hearing loss(parent)

Hereditary disorder of nervous system(parent)

Panhypopituitarism(parent)

Hereditary disorder of endocrine system(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 771308008
UMLS CUI: C4749825
Fully Specified Name: Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.