Syndromes with structural anomalies due to inborn errors of metabolism

Foundation children elsewhere

• 5C52.10 – Disorders of cholesterol synthesis
• 5C53.02 – Pyruvate dehydrogenase complex deficiency
• 5C54 – Inborn errors of glycosylation or other specified protein modification
• 5C56.01 – Fabry disease
• 5C56.20 – Mucolipidosis
• 5C56.21 – Oligosaccharidosis
• 5C56.3 – Mucopolysaccharidosis

Sibling codes

• LD20 – Syndromes with central nervous system anomalies as a major feature
• LD21 – Syndromes with eye anomalies as a major feature
• LD22 – Syndromes with dental anomalies as a major feature
• LD23 – Syndromes with vascular anomalies as a major feature
• LD24 – Syndromes with skeletal anomalies as a major feature
• LD25 – Syndromes with face or limb anomalies as a major feature
• LD26 – Syndromes with limb anomalies as a major feature
• LD27 – Syndromes with skin or mucosal anomalies as a major feature
• LD28 – Syndromes with connective tissue involvement as a major feature
• LD29 – Syndromes with obesity as a major feature
• LD2A – Malformative disorders of sex development
• LD2B – Syndromes with premature ageing appearance as a major feature
• LD2C – Overgrowth syndromes
• LD2D – Phakomatoses or hamartoneoplastic syndromes
• LD2F – Syndromes with multiple structural anomalies, without predominant body system involvement
• LD2G – Conjoined twins
• LD2H – Syndromic genetic deafness
• LD2Y – Other specified multiple developmental anomalies or syndromes
• LD2Z – Multiple developmental anomalies or syndromes, unspecified

Foundation entity

Syndromes with structural anomalies due to inborn errors of metabolism – http://id.who.int/icd/entity/92993920