Dubowitz Syndrome

Preferred Label : Dubowitz Syndrome;

NCIt definition : A rare, autosomal recessive inherited syndrome characterized by microcephaly, growth retardation, and a small, round, triangular shaped face with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.;

Details

Origin ID

C125591;

UMLS CUI

C0175691;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Dubowitz syndrome [DO Concept]
- Dubowitz syndrome [OMIM Phenotype]
- Dubowitz syndrome [MeSH concept]
- Dubowitz syndrome [MedDRA Preferred Term]
- Dubowitz syndrome [ORDO Disease]
- Dubowitz syndrome [PASCAL descriptor]
- Dubowitz syndrome [ICD-11 More detail]
- Dubowitz's syndrome (disorder) [SNOMED CT concept]
- dubowitz syndrome [MeSH Supplementary Concept]
- dubowitz's syndrome [SNOMED Notion]
DO Cross reference
- Dubowitz syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dubowitz syndrome [ORDO Disease]
- Dubowitz syndrome [PASCAL descriptor]
- Dubowitz syndrome [DO Concept]
- Dubowitz syndrome [OMIM Phenotype]
- Dubowitz syndrome [MeSH concept]
- Dubowitz syndrome [MedDRA Preferred Term]
- Dubowitz syndrome [ICD-11 More detail]
- Dubowitz's syndrome (disorder) [SNOMED CT concept]
- dubowitz syndrome [MeSH Supplementary Concept]
- dubowitz's syndrome [SNOMED Notion]
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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