Seckel Syndrome

Preferred Label : Seckel Syndrome;

NCIt synonyms : Bird-Headed Dwarfism; Nanocephalic Dwarfism; SCKL; Microcephalic Primordial Dwarfism; Seckel-Type Dwarfism;

NCIt definition : A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a bird-headed facial appearance.;

Details

Origin ID

C125488;

UMLS CUI

C0265202;

Automatic exact mappings (from CISMeF team)
- ATR serine/threonine kinase [ORDO Gene]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Microcephalic primordial dwarfism [ORDO Disease]
- Seckel syndrome [ICD-11 More detail]
- Seckel syndrome [OMIM phenotypic series]
- Seckel syndrome 1 [OMIM Phenotype]
- seckel syndrome 1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Seckel syndrome [PASCAL descriptor]
- Seckel syndrome [ORDO Disease]
- Seckel syndrome [DO Concept]
- Seckel syndrome (disorder) [SNOMED CT concept]
- seckel syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel syndrome [ORDO Disease]
- Seckel syndrome [PASCAL descriptor]
- Seckel syndrome [DO Concept]
- Seckel syndrome (disorder) [SNOMED CT concept]
- Seckel syndrome 1 [OMIM Phenotype]
- Seckel syndrome 1 [MeSH concept]
- seckel 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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