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Codificación en Neurología Pediátrica (CIE-9) - Revista de Neurología

Codificación en Neurología Pediátrica (CIE-9) - Revista de Neurología

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13. Errores congénitos <strong>de</strong>l metabolismo con repercusión neurológica<br />

13. Inborn errors of metabolism with neurological repercussions<br />

<strong>CIE</strong>-9/<br />

ICD-9<br />

52<br />

CE/<br />

SC<br />

Diagnóstico Diagnose<br />

266.2 01 Folato cerebral y ácido folínico (déficit) Folic acid and folinic acid (cerebral<br />

<strong>de</strong>fici<strong>en</strong>cy)<br />

266.2 02 Biotina (trastorno <strong>de</strong>l metabolismo) Biotine (inborn error of metabolism of)<br />

266.2 03 Vitamina B12 (trastorno <strong>de</strong>l metabolismo) Vitamin B12 (inborn error of metabolism of)<br />

266.9 S/E Piridoxina (<strong>de</strong>p<strong>en</strong>d<strong>en</strong>cia) Piridoxine <strong>de</strong>p<strong>en</strong>d<strong>en</strong>cy syndrome<br />

270.0 S/E Aminoacidopatía (alteración <strong>de</strong>l<br />

transporte): Hartnup, cistinosis, otros<br />

270.1 S/E F<strong>en</strong>ilcetonuria Ph<strong>en</strong>ilketonuria<br />

270.2 01 Tirosinemia, alteraciones <strong>de</strong>l triptófano<br />

(ECM <strong>de</strong> aminoácidos aromáticos excepto<br />

f<strong>en</strong>ilalanina)<br />

Disor<strong>de</strong>rs of aminoacid transport: Hartnup<br />

disease, cystinosis, etc.<br />

Hypertyrosinemia, other inborn errors of the<br />

metabolism of aromatic aminoacids (except<br />

ph<strong>en</strong>ylalanine)<br />

270.3 01 Aciduria metilmalónica Methylmalonic aci<strong>de</strong>mia<br />

270.3 02 Jarabe <strong>de</strong> arce (ECM <strong>de</strong> aminoácidos <strong>de</strong><br />

cad<strong>en</strong>a ramificada)<br />

Maple urine syrup disease (and other inborn<br />

errors of the metabolism of branched-chain<br />

aminoacids)<br />

270.4 01 Metionina sintasa (déficit) Methionine synthase <strong>de</strong>fici<strong>en</strong>cy<br />

270.4 02 Metiltetrahidrofolatorreductasa (déficit<br />

MTHFR)<br />

Methyl<strong>en</strong>etetrahydrofolate reductase<br />

<strong>de</strong>fici<strong>en</strong>cy<br />

270.4 03 Sulfito oxidasa (déficit) Sulfite oxidase <strong>de</strong>fici<strong>en</strong>cy<br />

270.4 04 Homocistinuria (ECM <strong>de</strong> aminoácidos<br />

sulfurados)<br />

270.5 S/E Histidinemia Histidinemia<br />

270.6 S/E Ciclo <strong>de</strong> la urea (trastorno): síndrome<br />

HHH (hiperamonemia, hiperornitinemia,<br />

homocitrulinuria), aciduria<br />

argininosuccínica<br />

Homocystinuria (and other inborn errors of<br />

sulfur-containing aminoacids)<br />

Urea cycle disor<strong>de</strong>r: HHH syndrome,<br />

argininosuccinic aciduria, etc.<br />

270.7 01 Aciduria glutárica tipo I Glutaric aciduria, type I<br />

270.7 02 Hiperglicinemia no cetósica Non-ketotic hyperglycinemia<br />

270.8 01 Carnosinemia Carnosinemia<br />

270.8 02 Glutatión sintetasa (déficit) Glutathione synthetase <strong>de</strong>fici<strong>en</strong>cy<br />

270.8 03 Creatina cerebral (déficit) Creatine <strong>de</strong>fici<strong>en</strong>cy, cerebral<br />

270.8 04 Hiperprolinemia Hyperprolinemia

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