Thiemann disease

Preferred Label : Thiemann disease;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Osteoarthropathy of fingers, familial; Thiemann epiphyseal disease;

Description : Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence (Kotevoglu-Senerdem et al., 2003).;

Inheritance : Autosomal dominant;

Prefixed ID : %165700;

Détails

Origin ID

165700;

UMLS CUI

C0264081;

Automatic exact mappings (from CISMeF team)
- Familial osteoarthropathy of the fingers (disorder) [SNOMED CT concept]
- Osteoarthropathy of fingers familial [MeSH concept]
- familial osteoarthropathy of the fingers [SNOMED Notion]
- osteoarthropathy of fingers familial [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Thiemann disease, familial form [ORDO Disease]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis [HPO term]
- Broad phalanx [HPO term]
- Short phalanx of finger [HPO term]
- Short, wide phalanges [HPO term]
ORDO concept(s)
- Thiemann disease, familial form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial osteoarthropathy of the fingers (disorder) [SNOMED CT concept]
- Osteoarthropathy of fingers familial [MeSH concept]
- Thiemann disease, familial form [ORDO Disease]
- familial osteoarthropathy of the fingers [SNOMED Notion]
- osteoarthropathy of fingers familial [MeSH Supplementary Concept]

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

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