Ehlers-Danlos syndrome, progeroid type

Preferred Label : Ehlers-Danlos syndrome, progeroid type;

ICD-11 definition : Ehlers-Danlos syndrome, progeroid type is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.;

ICD-11 synonym : Galactosyltransferase I deficiency; Xylosylprotein 4-beta-galactosyltransferase deficiency; Defective biosynthesis of proteodermatan sulfate;

Détails

Origin ID

962848631;

Currated CISMeF NLP mapping
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome progeroid type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome spondylodysplastic type 2 [DO Concept]
- Ehlers-Danlos syndrome, progeroid form [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, progeroid form [MeSH concept]
- Ehlers-danlos syndrome, spondylodysplastic type, 1 [OMIM Phenotype]

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