Coffin-Siris syndrome

Preferred Label : Coffin-Siris syndrome;

MeSH note : Mental retardation with absent fifth fingernail and terminal phalanx;

MeSH synonym : fifth digit syndrome; Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features;

Details

Origin ID

C536436;

UMLS CUI

C0265338;

Currated CISMeF NLP mapping
- Coffin-Siris Syndrome [NCIt concept]
- Coffin-Siris syndrome [PASCAL descriptor]
- Coffin-Siris syndrome [DO Concept]
- Coffin-Siris syndrome [ICD-11 More detail]
- Coffin-Siris syndrome [ORDO Disease]
- Coffin-Siris syndrome (disorder) [SNOMED CT concept]
- Coffin-Siris syndrome 1 [DO 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]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- face [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- micrognathism [MeSH Descriptor]
- neck [MeSH Descriptor]
ORDO relation(s)
- Coffin-Siris syndrome [ORDO Disease]
Record concept(s)
- Coffin-Siris syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coffin Siris syndrome [MedDRA Preferred Term]
- Coffin-Siris Syndrome [NCIt concept]
- Coffin-Siris syndrome [ORDO Disease]
- Coffin-Siris syndrome [DO Concept]
- Coffin-Siris syndrome (disorder) [SNOMED CT concept]
- coffin-siris syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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