Coffin-Siris Syndrome

Preferred Label : Coffin-Siris Syndrome;

NCIt definition : A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide nose and lips, sparse scalp hair but thick eyebrows and eyelashes. The clinical course includes developmental delays in motor skills and speech with associated moderate mental retardation.;

Details

Origin ID

C35321;

UMLS CUI

C0265338;

Currated CISMeF NLP mapping
- Coffin-Siris syndrome [PASCAL descriptor]
- Coffin-Siris syndrome [DO Concept]
- Coffin-Siris syndrome [ICD-11 More detail]
- Coffin-Siris syndrome [MeSH concept]
- Coffin-Siris syndrome [MeSH Supplementary Concept]
- Coffin-Siris syndrome [ORDO Disease]
- Coffin-Siris syndrome (disorder) [SNOMED CT concept]
- Coffin-siris syndrome [OMIM phenotypic series]
- Coffin-siris syndrome 1 [OMIM Phenotype]
- coffin-siris syndrome [SNOMED Notion]
DO Cross reference
- Coffin-Siris syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coffin Siris syndrome [MedDRA Preferred Term]
- Coffin-Siris syndrome [ORDO Disease]
- Coffin-Siris syndrome [MeSH Supplementary Concept]
- Coffin-Siris syndrome [MeSH concept]
- Coffin-Siris syndrome [DO Concept]
- Coffin-Siris syndrome (disorder) [SNOMED CT concept]
- coffin-siris syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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