Fascial dystrophy, congenital

Preferred Label : Fascial dystrophy, congenital;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 228020;

Details

Origin ID

228020;

UMLS CUI

C1302740;

Currated CISMeF NLP mapping
- Congenital fascial dystrophy (disorder) [Inactive SNOMED CT concept]
- fascial dystrophy, congenital [MeSH concept]
- fascial dystrophy, congenital [MeSH Supplementary Concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Abnormality of the respiratory system [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Contractures of the joints of the lower limbs [HPO term]
- Limitation of joint mobility [HPO term]
ORDO concept(s)
- Stiff skin syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital fascial dystrophy (disorder) [Inactive SNOMED CT concept]
- fascial dystrophy, congenital [MeSH Supplementary Concept]
- fascial dystrophy, congenital [MeSH concept]

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