Stuve-Wiedemann syndrome

Preferred Label : Stuve-Wiedemann syndrome;

CISMeF synonym : Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome;

MeSH synonym : schwartz jampel type 2 syndrome; schwartz jampel syndrome neonatal; Schwartz-Jampel syndrome, neonatal; Schwartz-Jampel syndrome, type 2; Stuve-Wiedemann-Schwartz-Jampel type 2 syndrome;

Détails

Origin ID

C537502;

UMLS CUI

C0796176;

Currated CISMeF NLP mapping
- Stuve Wiedemann syndrome [Disease (Nov.)]
- Stuve-Wiedemann dysplasia (disorder) [SNOMED CT concept]
- Stuve-wiedemann syndrome 1 [OMIM Phenotype]
- Stüve-Wiedemann syndrome [ICD-11 More detail]
- Stüve-Wiedemann syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Congenital bowing of the long bones [HPO term]
- Corneal opacity [HPO term]
- Feeding difficulties [HPO term]
- Flared irregular metaphyses [HPO term]
- Flexion contractures of the toes [HPO term]
- Genu varus [HPO term]
- Hypernasal speech [HPO term]
- Knee contractures [HPO term]
- Radiolucent metaphyses have abnormal trabecular pattern [HPO term]
- camptodactyly with ulnar deviation [HPO term]
- hypertrophy of the pulmonary artery wall [HPO term]
- short, slender long bones [HPO term]
MeSH term(s) associated for indexing
- exostoses, multiple hereditary [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Stüve-Wiedemann syndrome [ORDO Disease]
Record concept(s)
- Stuve-Wiedemann syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stuve-Wiedemann dysplasia (disorder) [SNOMED CT concept]
- Stuve-wiedemann syndrome 1 [OMIM Phenotype]

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