Blount disease, infantile

Preferred Label : Blount disease, infantile;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Osteochondrosis deformans tibiae, infantile; Tibia vara, infantile;

Description : Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).;

Inheritance : Autosomal dominant; ? heterogeneous;

Prefixed ID : 188700;

Détails

Origin ID

188700;

UMLS CUI

C0220757;

Broader ORDO disease(s)
- Blount disease [ORDO Disease]
Currated CISMeF NLP mapping
- Blount disease [ORDO Disease]
- Blount disease (disorder) [SNOMED CT concept]
- Blount's disease [DO Concept]
- osteochondrosis deformans tibiae, familial infantile type [MeSH concept]
DO Cross reference
- Blount's disease [DO Concept]
HPO term(s)
- Abnormality of the proximal tibial epiphysis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Genu varum [HPO term]
- Genu varus [HPO term]
ORDO concept(s)
- Blount disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blount disease (disorder) [SNOMED CT concept]
- Blount's disease [DO Concept]
- osteochondrosis deformans tibiae, familial infantile type [MeSH concept]

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

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