Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased circulating alkaline phosphatase activity
Always present (100%)HP:0003282
Increased urine O-phosphoethanolamine level
Always present (100%)HP:0003239
Anorexia
HP:0002039
Apnea
HP:0002104
Bowdler spurs
HP:6000873
Bowed lower limbs
HP:0002979
Central hypotonia
HP:0001252
Constipation
HP:0002019
Decreased haemoglobin
HP:0001903
Deformity of the skull
HP:0001363
Dwarfism, short-limbed
HP:0008873
Elevated plasma pyrophosphate
HP:0011864
Elevated urine pyrophosphate
HP:0003491
Flattened vertebral bodies
HP:0000926
Grey sclerae
HP:0000592
High-pitched cry
HP:0025430
Hypercalcemia
HP:0003072
Hypercalciuria
HP:0002150
Increased amniotic fluid index
HP:0001561
Increased calcium level in kidney
HP:0000121
Increased susceptibility to fractures
HP:0002659
Intracranial haemorrhage
HP:0002170
Irritability
HP:0000737
Metaphyseal cupping
HP:0003021
Micromelia
HP:0002983
Pyrexia
HP:0001945
Rachitic rosary
HP:0000897
respiratory infections, recurrent
HP:0002205
Seizures
HP:0001250
Short lower limbs
HP:0006385
Quick Facts
- SNOMED CT
- 55236002
- UMLS CUI
- C0268412
- Fully Specified Name
- Infantile hypophosphatasia (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.