1

Clinical manifestation of enzyme deficiency (disorder)

900000000000448009

XUbRE

C1444206

900000000000074008

20040731

410053003

Clinical manifestation of enzyme deficiency

447562003~MAPRULE~TRUE

6011000124106~MAPRULE~IFA 410052008 | Carnosinemia |

6011000124106~MAPRULE~IFA 314467007 | Gyrate atrophy (disorder) |

6011000124106~MAPADVICE~IF CLINICAL MANIFESTATION OF CARNOSINASE DEFICIENCY CHOOSE E70.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~7

6011000124106~MAPPRIORITY~4

6011000124106~MAPRULE~IFA 410058007 | Histidinemia |

6011000124106~MAPADVICE~IF CLINICAL MANIFESTATION OF CARNOSINASE DEFICIENCY CHOOSE E70.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF HYPERIMIDODIPEPTIDURIA DUE TO PROLINE DIPEPTIDASE DEFICIENCY CHOOSE E88.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPGROUP~1

6011000124106~MAPTARGET~E70.89

447562003~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPRULE~IFA 410051001 | Carnosinuria |

6011000124106~MAPPRIORITY~8

6011000124106~MAPADVICE~IF CARNOSINURIA CHOOSE E70.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF HYPERIMIDODIPEPTIDURIA CHOOSE E88.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~E71.19

6011000124106~MAPRULE~IFA 410055005 | Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) |

447562003~MAPGROUP~1

6011000124106~MAPTARGET~H31.23

6011000124106~MAPTARGET~E70.41

6011000124106~MAPRULE~IFA 410050000 | Clinical manifestation of carnosinase deficiency (disorder) |

447562003~CORRELATIONID~447561005

6011000124106~MAPTARGET~E70.8

6011000124106~MAPADVICE~IF TYROSINEMIA TYPE I CHOOSE E70.21 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~IF HYDROXYMETHYLGLUTARIC ACIDURIA CHOOSE E71.19 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~ALWAYS E88.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE

447562003~MAPTARGET~

447562003~MAPPRIORITY~1

6011000124106~MAPRULE~IFA 410058007 | Histidinemia (disorder) |

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

6011000124106~MAPRULE~IFA 314467007 | Gyrate atrophy |

6011000124106~MAPPRIORITY~9

6011000124106~MAPRULE~IFA 410055005 | Hyperimidodipeptiduria |

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPTARGET~E88.9

6011000124106~MAPPRIORITY~1

6011000124106~MAPADVICE~IF GYRATE ATROPHY CHOOSE H31.23 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~6

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~IFA 410056006 | Tyrosinemia type I (disorder) |

6011000124106~MAPTARGET~E88.89

6011000124106~MAPRULE~IFA 410059004 | Hydroxymethylglutaric aciduria |

6011000124106~MAPTARGET~E70.21

6011000124106~MAPPRIORITY~3

6011000124106~MAPRULE~IFA 410059004 | Hydroxymethylglutaric aciduria (disorder) |

6011000124106~MAPRULE~IFA 410056006 | Tyrosinemia type I |

6011000124106~MAPPRIORITY~2

6011000124106~MAPADVICE~IF CARNOSINEMIA CHOOSE E70.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000497000~MAPTARGET~XUbRE

6011000124106~MAPADVICE~IF HISTIDINEMIA CHOOSE E70.41 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPCATEGORYID~447638001

6011000124106~MAPRULE~IFA 410050000 | Clinical manifestation of carnosinase deficiency |

T047

900000000000003001

900000000000013009