Type V Acrocephalosyndactyly

Preferred Label : Type V Acrocephalosyndactyly;

NCIt synonyms : Pfeiffer Syndrome; Noack Syndrome;

NCIt related terms : Acrocephalosyndactyly Type V;

NCIt definition : An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes.;

Details

Origin ID

C99100;

UMLS CUI

C0220658;

Automatic exact mappings (from CISMeF team)
- acrocephalosyndactylia [MeSH Descriptor]
- fibroblast growth factor receptor 1 [ORDO Gene]
- fibroblast growth factor receptor 1 [HGNC gene]
- fibroblast growth factor receptor 2 [ORDO Gene]
- fibroblast growth factor receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Acrocephalosyndactyly type V (disorder) [SNOMED CT concept]
- Pfeiffer syndrome [OMIM Phenotype]
- Pfeiffer syndrome [PASCAL descriptor]
- Pfeiffer syndrome [ORDO Disease]
- Pfeiffer syndrome [DO Concept]
- Pfeiffer syndrome [ICD-11 Sub-sub category]
- Pfeiffer syndrome [MedDRA Preferred Term]
- pfeiffer syndrome [SNOMED Notion]
- pfeiffer syndrome [MeSH concept]
- pfeiffer type acrocephalosyndactyly [MeSH Supplementary Concept]
DO Cross reference
- Pfeiffer syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalosyndactyly type V (disorder) [SNOMED CT concept]
- Pfeiffer syndrome [OMIM Phenotype]
- Pfeiffer syndrome [DO Concept]
- Pfeiffer syndrome [MedDRA Preferred Term]
- pfeiffer syndrome [SNOMED Notion]
- pfeiffer syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FGFR1 Gene [NCIt concept]
- FGFR2 Gene [NCIt concept]
related_to_genetic_biomarker
- FGFR1 Gene [NCIt concept]
- FGFR2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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