Disorders of lysine and hydroxylysine metabolism

Preferred Label : Disorders of lysine and hydroxylysine metabolism;

Inclusion CIM-10 : Hydroxylysinemia; Glutaric aciduria (type I); Hyperlysinemia; Glutaric aciduria NOS;

ICD-10 exclusion note : glutaric aciduria type II (E71.313); Refsum's disease (G60.1); Zellweger syndrome (E71.510);

Diag associé à un acte (%) : 71.4;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E723;

UMLS CUI

C0268552;

Automatic exact mappings (from CISMeF team)
- Glutaric acidemia type 1 [LOINC component]
- Glutaric aciduria type I [PASCAL descriptor]
- Glutaric aciduria, type 1 (disorder) [SNOMED CT concept]
- Hyperlysinemia [ORDO Disease]
- Hyperlysinemia [HPO term]
- Hyperlysinemia [MedDRA LLT]
- Hyperlysinemia [NCIt concept]
- Hyperlysinemia [PASCAL descriptor]
- Hyperlysinemia (disorder) [SNOMED CT concept]
- glutaric acidemia I [DO Concept]
- hyperlysinemia [DO Concept]
- hyperlysinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Disorder of lysine AND/OR hydroxylysine metabolism (disorder) [SNOMED CT concept]
- Disorder of lysine and hydroxylysine metabolism [ORDO Disease]
- Disorder of lysine and hydroxylysine metabolism (disorder) [SNOMED CT concept]
- Disorders of lysine or hydroxylysine metabolism [ICD-11 Subcategory]
- disorder of lysine and hydroxylysine metabolism, nos [SNOMED Notion]
DO Cross reference
- hyperlysinemia [DO Concept]
ICD-10 exclusion(s)
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category]
- Refsum's disease [ICD-10 Sub-category]
Orphanet concepts
- 2-aminoadipic 2-oxoadipic aciduria [ORDO Disease]
- Disorder of lysine and hydroxylysine metabolism [ORDO Disease]
- Glutaric acidemia type 3 [ORDO Disease]
- Glutaryl-CoA dehydrogenase deficiency [ORDO Disease]
- Hyperlysinemia [ORDO Disease]
- Pipecolic acidemia [ORDO Disease]
- Saccharopinuria [ORDO Disease]
- Seizures-intellectual disability due to hydroxylysinuria syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of lysine AND/OR hydroxylysine metabolism (disorder) [SNOMED CT concept]
- Disorder of lysine and hydroxylysine metabolism [ORDO Disease]
- Disorder of lysine and hydroxylysine metabolism (disorder) [SNOMED CT concept]
- Disorders of lysine or hydroxylysine metabolism [ICD-11 Subcategory]
- disorder of lysine and hydroxylysine metabolism, nos [SNOMED Notion]

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