Seckel syndrome 3

Preferred Label : Seckel syndrome 3;

Obsolete resource : true;

Moved to : 210600;

Alternative titles and symbols : Sckl3;

Description : Seckel syndrome is a rare autosomal recessive disorder characterized by microcephaly with mental retardation, low birth weight-type proportionate dwarfism, and a characteristic facial appearance (Kilinc et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).;

Prefixed ID : 608664;

Details

Origin ID

608664;

UMLS CUI

C1837590;

Automatic exact mappings (from CISMeF team)
- Seckel syndrome [ORDO Disease]
Broader ORDO disease(s)
- Seckel syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- seckel syndrome 3 [MeSH concept]
- seckel syndrome 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- seckel syndrome 3 [MeSH Supplementary Concept]
- seckel syndrome 3 [MeSH concept]

Keyword's position in hierarchy(ies) :

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