pfeiffer syndrome

Preferred Label : pfeiffer syndrome;

Détails

Origin ID

D4-00C02;

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 [PASCAL descriptor]
- Pfeiffer syndrome [DO Concept]
- Pfeiffer syndrome [ICD-11 Sub-sub category]
- Pfeiffer syndrome [MedDRA Preferred Term]
- Pfeiffer syndrome [OMIM Phenotype]
- Pfeiffer syndrome [ORDO Disease]
- Type V Acrocephalosyndactyly [NCIt concept]
- pfeiffer syndrome [MeSH concept]
- pfeiffer type acrocephalosyndactyly [MeSH Supplementary Concept]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
- Choanal atresia or stenosis [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- occasional clover-leaf skull [HPO term]
- small nose with low nasal bridge [HPO term]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Pfeiffer syndrome type 1 [ORDO Disease]
- Pfeiffer syndrome type 2 [ORDO Disease]
- Pfeiffer syndrome type 3 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Craniostenosis with strabismus [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Acrocephalosyndactyly type V (disorder) [SNOMED CT 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]
- Type V Acrocephalosyndactyly [NCIt concept]
- pfeiffer syndrome [MeSH concept]

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