Autosomal fragile site

Description

Any disease caused by presence of a fragile site on an autosome. These diseases may present as asymptomatic. Confirmation is through observation of a fragile site by genetic testing.

Index terms

Autosomal fragile site
autosomal fragile site syndrome
fragility non-sex chromosome site

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individual with autosomal fragile site

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD47.0 – Balanced translocation and insertion in normal individual
LD47.1 – Chromosome inversion in normal individual
LD47.2 – Balanced autosomal rearrangement in abnormal individual
LD47.3 – Balanced sex or autosomal rearrangement in abnormal individual
LD47.Y – Other specified balanced rearrangements or structural rearrangements
LD47.Z – Balanced rearrangements or structural rearrangements, unspecified

Foundation entity

Autosomal fragile site – http://id.who.int/icd/entity/1714890923

Part of: LD47: Balanced rearrangements or structural rearrangements › 20: Developmental anomalies