Neonatal Progeroid Syndrome

Preferred Label : Neonatal Progeroid Syndrome;

NCIt synonyms : Wiedemann-Rautenstrauch Syndrome;

NCIt definition : A rare autosomal recessive disorder associated with abnormalities in bone maturation, and lipids and hormone metabolism and characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood. Its cause is unknown.;

Details

Origin ID

C121565;

UMLS CUI

C0406586;

Currated CISMeF NLP mapping
- Neonatal pseudo-hydrocephalic progeroid syndrome (disorder) [SNOMED CT concept]
- Progeroid syndrome, neonatal [MeSH concept]
- Wiedemann-Rautenstrauch progeroid syndrome [ICD-11 More detail]
- Wiedemann-Rautenstrauch syndrome [ORDO Disease]
- Wiedemann-rautenstrauch syndrome [OMIM Phenotype]
- neonatal progeroid syndrome [Disease (Nov.)]
- progeroid syndrome, neonatal [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal pseudo-hydrocephalic progeroid syndrome (disorder) [SNOMED CT concept]
- Progeroid syndrome, neonatal [MeSH concept]
- Wiedemann-Rautenstrauch progeroid syndrome [ICD-11 More detail]
- Wiedemann-Rautenstrauch syndrome [ORDO Disease]
- Wiedemann-rautenstrauch syndrome [OMIM Phenotype]
- neonatal progeroid syndrome [Disease (Nov.)]
- progeroid syndrome, neonatal [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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