Ehlers-Danlos syndrome, progeroid form

Preferred Label : Ehlers-Danlos syndrome, progeroid form;

Définition CISMeF : Ehlers-Danlos syndrome, progeroid type (EDS-PF) 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.;

MeSH note : mutation in B4GALT7;

MeSH synonym : proteodermatan sulfate, defective biosynthesis of; progeroid variant of Ehlers-Danlos syndrome; xylosylprotein 4-beta-galactosyltransferase deficiency; galactosyltransferase 1 deficiency; galactosyltransferase I deficiency;

Details

Origin ID

C536201;

UMLS CUI

C4552003;

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 type [ICD-11 More detail]
- Ehlers-danlos syndrome, spondylodysplastic type, 1 [OMIM Phenotype]
- progeroid form Ehlers Danlos syndrome [Disease (Nov.)]
Has phenotype(s) (HPO)
- Prominent eyes [HPO term]
- Thin, atrophic scars [HPO term]
MeSH term(s) associated for indexing
- ehlers-danlos syndrome [MeSH Descriptor]
ORDO relation(s)
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
Record concept(s)
- Ehlers-Danlos syndrome, progeroid form [MeSH concept]
See also (suggested by CISMeF)
- xylosylprotein 4-beta-galactosyltransferase [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos syndrome progeroid type (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, spondylodysplastic type, 1 [OMIM Phenotype]

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