Immuno-osseous dysplasia

Description

This is an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.

Index terms

Immuno-osseous dysplasia
Schimke immuno-osseous dysplasia
Schimke syndrome

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Spondyloepiphyseal dysplasia - nephrotic syndrome

Exclusions from above levels

02 – Neoplasms
18 – Complications of pregnancy, childbirth and the puerperium
20 – Developmental anomalies

Sibling codes

4A01.30 – Immunodeficiency due to defects of the thymus
4A01.31 – DNA repair defects other than combined T-cell or B-cell immunodeficiencies
4A01.33 – Hepatic veno-occlusive disease - immunodeficiency syndrome
4A01.34 – Hyperimmunoglobulin E syndromes

Foundation entity

Immuno-osseous dysplasia – http://id.who.int/icd/entity/1948303413

Part of: 4A01.3: Other well-defined immunodeficiency syndromes due to defects in adaptive immunity › 4A01: Primary immunodeficiencies due to disorders of adaptive immunity › 04: Diseases of the immune system