Ehlers-Danlos syndrome, progeroid form

Preferred Label : Ehlers-Danlos syndrome, progeroid form;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530662;

UMLS CUI

C1869122;

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]
Related record
- Ehlers-Danlos syndrome, progeroid form [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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, spondylodysplastic type, 1 [OMIM Phenotype]