X-linked cutis laxa

Preferred Label : X-linked cutis laxa;

ICD-11 definition : Occipital horn syndrome (OHS) is a mild form of Menkes disease (see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.;

ICD-11 synonym : Ehlers-Danlos syndrome type IX; OHS - [occipital horn syndrome]; occipital horn syndrome;

ICD-11 acronym : OHS;

ICD-11 inclusion : Occipital horn syndrome;

Détails

Origin ID

921797768;

Automatic exact mappings (from CISMeF team)
- overhydrated hereditary stomatocytosis [DO Concept]
Currated CISMeF NLP mapping
- Cutis laxa, x-linked (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome type IX [MedDRA LLT]
- Occipital horn syndrome [ORDO Disease]
- Occipital horn syndrome [OMIM Phenotype]
- Occipital horn syndrome [MeSH concept]
- cutis laxa, x-linked [SNOMED Notion]
- occipital horn syndrome [MeSH Supplementary Concept]
- occipital horn syndrome [DO Concept]
False automatic mappings
- Overhydrated hereditary stomatocytosis [OMIM Phenotype]

Position du mot-clé dans l'(les) arborescence(s) :

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