Disorders of ornithine metabolism

Preferred Label : Disorders of ornithine metabolism;

Inclusion CIM-10 : Ornithine transcarbamylase deficiency; Hyperammonemia-Hyperornithinemia-Homocitrullinemia syndrome; Ornithinemia (types I, II);

ICD-10 exclusion note : hereditary choroidal dystrophy (H31.2-);

Diag associé à un acte (%) : 46.6;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E724;

UMLS CUI

C0342690;

Automatic exact mappings (from CISMeF team)
- Abnormal circulating ornithine concentration [HPO term]
- Ornithine Carbamoyltransferase Deficiency Disease [NCIt concept]
- Ornithine carbamoyltransferase deficiency (disorder) [SNOMED CT concept]
- Ornithine transcarbamylase deficiency [ORDO Disease]
- Ornithine transcarbamylase deficiency [MedDRA LLT]
- ornithine carbamoyltransferase deficiency [DO Concept]
- ornithine carbamoyltransferase deficiency disease [MeSH Descriptor]
- ornithine transcarbamylase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Disorder of ornithine metabolism [ORDO Disease]
- Disorder of ornithine metabolism (disorder) [SNOMED CT concept]
- Disorders of ornithine metabolism [ICD-11 Subcategory]
- Disorders of ornithine metabolism [ICD-10 Sub-category (who)]
DO Cross reference
- ornithine carbamoyltransferase deficiency [DO Concept]
Excluded by
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Hereditary choroidal dystrophy [ICD-10 Sub-category]
Orphanet concepts
- Disorder of ornithine metabolism [ORDO Disease]
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome [ORDO Disease]
- Gyrate atrophy of choroid and retina [ORDO Disease]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [ORDO Disease]
- Ornithine transcarbamylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of ornithine metabolism [ORDO Disease]
- Disorder of ornithine metabolism (disorder) [SNOMED CT concept]
- Disorders of ornithine metabolism [ICD-11 Subcategory]
Validated automatic mappings to BTNT
- Ornithine carbamoyltransferase deficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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