Progeria - CISMeF

Preferred Label : Progeria;

ICD-11 definition : Hutchinson-Gilford progeria syndrome is an extremely rare disorder characterized by premature aging of postnatal onset. The main clinical and radiological features include alopecia, thin skin, hypoplasia of nails, loss of subcutaneous fat, stiffness of joints and osteolysis, and normal intelligence.;

ICD-11 synonym : Hutchinson-Gilford syndrome;

Details

Origin ID

926151882;

Automatic exact mappings (from CISMeF team)
- Other specified endocrine disorders [ICD-10 Sub-category]
- genetic disorders [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
- Hutchinson-gilford progeria syndrome [OMIM Phenotype]
- Progeria [PASCAL descriptor]
- Progeria [NCIt concept]
- Progeria [MedDRA Preferred Term]
- progeria [DO Concept]
- progeria [MeSH Descriptor]
- progeria [MeSH concept]
- progeria syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Progeria or progeroid syndrome [OMIM phenotypic series]

Keyword's position in hierarchy(ies) :

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