Hypocalcemic vitamin D-dependent rickets

Orpha code: 289157OMIM code: 600081

Definition

A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.

Disease data
Classification

Disease

Synonyms
1-alpha-hydroxylase deficiency
Krzywica zależna od witaminy D typu I
Niedobór 1-alfa-hydroksylazy
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D-dependency type I
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
ORPHA code
289157
OMIM code
600081
ICD10 code
E55.0
ICD11 code
5C63.20

No additional description.

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