acrocephalosyndactylia

Preferred Label : acrocephalosyndactylia;

MeSH definition : Congenital craniostenosis with syndactyly.;

MeSH synonym : acrocephalosyndactylias; kurczynski casperson syndrome; syndrome, kurczynski casperson;

MeSH hyponym : apert syndrome; pfeiffer syndrome; Saethre-Chotzen syndrome; Apert-Crouzon disease; Apert Crouzon Disease; Disease, Apert-Crouzon; Acrocephalosyndactyly, Type II; Acrocephalosyndactylies, Type II; Type II Acrocephalosyndactylies; Type II Acrocephalosyndactyly; Saethre Chotzen Syndrome; Syndrome, Saethre-Chotzen; Acrocephaly, Skull Asymmetry, and Mild Syndactyly; Acrocephalosyndactyly III; Acrocephalosyndactyly IIIs; Acrocephalosyndactyly, Type III; Acrocephalosyndactylies, Type III; Type III Acrocephalosyndactyly; Dysostosis Craniofacialis with Hypertelorism; Acrocephalosyndactyly, Type 3; Acrocephalosyndactylies, Type 3; Chotzen Syndrome; Syndrome, Chotzen; Syndrome, Apert; Acrocephalosyndactyly (Apert); Acrocephalosyndactyly, Type I; Acrocephalosyndactylies, Type I; Type I Acrocephalosyndactylies; Type I Acrocephalosyndactyly; Acrocephalosyndactyly, Type 1; Acrocephalosyndactylies, Type 1; Syndactylic Oxycephaly; Syndactylic Oxycephalies; Syndrome, Pfeiffer; Noack Syndrome; Noack Syndromes; Syndrome, Noack; Syndromes, Noack; Craniofacial-Skeletal-Dermatologic Dysplasia; Acrocephalosyndactyly, Type V; Acrocephalosyndactylies, Type V; Type V Acrocephalosyndactylies; Type V Acrocephalosyndactyly;

Wikipedia link : https://en.wikipedia.org/wiki/Acrocephalosyndactylia;

Details

Origin ID

D000168;

UMLS CUI

C1510455;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Acrocephalosyndactyly type V (disorder) [SNOMED CT concept]
- Carpenter syndrome [ORDO Disease]
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
- Crouzon syndrome (disorder) [SNOMED CT concept]
- FGFR1 wt Allele [NCIt concept]
- FGFR2 wt Allele [NCIt concept]
- Pfeiffer syndrome [PASCAL descriptor]
- Pfeiffer syndrome [DO Concept]
- Pfeiffer syndrome [ICD-11 Sub-sub category]
- Pfeiffer syndrome [MedDRA Preferred Term]
- Pfeiffer syndrome [ORDO Disease]
- Pfeiffer syndrome [OMIM Phenotype]
- Saethre-Chotzen syndrome [DO Concept]
- Saethre-Chotzen syndrome [ICD-11 More detail]
- Saethre-Chotzen syndrome [ORDO Disease]
- Saethre-chotzen syndrome [OMIM Phenotype]
- Type III Acrocephalosyndactyly [NCIt concept]
- Type V Acrocephalosyndactyly [NCIt concept]
- crouzon syndrome [SNOMED Notion]
- 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]
- pfeiffer syndrome [SNOMED Notion]
- saethre-chotzen syndrome [SNOMED Notion]
- twist family bHLH transcription factor 1 [ORDO Gene]
- twist family bHLH transcription factor 1 [HGNC gene]
Currated CISMeF NLP mapping
- Acrocephalosyndactylia [PASCAL descriptor]
- Acrocephalosyndactyly [MedDRA Preferred Term]
- Acrocephalosyndactyly [ICD-9 code]
- Acrocephalosyndactyly [NCIt concept]
- Acrocephalosyndactyly [ORDO Disease]
- Acrocephalosyndactyly [MedDRA LLT]
- Acrocephalosyndactyly (disorder) [SNOMED CT concept]
- Acrocephalosyndactyly type I (disorder) [SNOMED CT concept]
- Apert syndrome [Disease (Nov.)]
- Apert syndrome [ORDO Disease]
- Apert syndrome [PASCAL descriptor]
- Apert syndrome [OMIM Phenotype]
- Apert syndrome [ICD-11 Sub-sub category]
- Apert syndrome [Radlex concept]
- Apert's syndrome [MedDRA LLT]
- Apert's syndrome [MedDRA Preferred Term]
- Aurocephalosyndactyly [ORDO Disease]
- acrocephalosyndactylia [Disease (Nov.)]
- acrocephalosyndactylia [DO Concept]
- apert's syndrome [SNOMED Notion]
DO Cross reference
- Pfeiffer syndrome [DO Concept]
- Saethre-Chotzen syndrome [DO Concept]
- acrocephalosyndactylia [DO Concept]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
- Choanal atresia or stenosis [HPO term]
- Flattened nasal bridge [HPO term]
- High, broad forehead [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Large, late-closing fontanelle [HPO term]
- Moderate to severe acne [HPO term]
- occasional clover-leaf skull [HPO term]
- small nose with low nasal bridge [HPO term]
Indexing information
- TWIST1 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Craniostenosis with strabismus [ORDO Disease]
- Craniosynostosis syndrome or cranial ossification disease [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Pfeiffer syndrome type 1 [ORDO Disease]
- Pfeiffer syndrome type 2 [ORDO Disease]
- Pfeiffer syndrome type 3 [ORDO Disease]
- Pierre Robin syndrome associated with bone disease [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Syndromic craniosynostosis [ORDO Disease]
ORDO relation(s)
- Acrocephalosyndactyly [ORDO Disease]
- Apert syndrome [ORDO Disease]
Record concept(s)
- Apert-Crouzon disease [MeSH concept]
- Saethre-Chotzen syndrome [MeSH concept]
- acrocephalosyndactylia [MeSH concept]
- apert syndrome [MeSH concept]
- pfeiffer syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Saethre-Chotzen syndrome with eyelid anomalies [MeSH Supplementary Concept]
- acrocephalopolysyndactyly type II [MeSH Supplementary Concept]
- cardiocranial syndrome [MeSH Supplementary Concept]
- goodman camptodactyly [MeSH Supplementary Concept]
- greig cephalopolysyndactyly syndrome [MeSH Supplementary Concept]
- maroteaux fonfria syndrome [MeSH Supplementary Concept]
- pfeiffer type acrocephalosyndactyly [MeSH Supplementary Concept]
- robinow sorauf syndrome [MeSH Supplementary Concept]
- sakati syndrome [MeSH Supplementary Concept]
- summitt syndrome [MeSH Supplementary Concept]
- vogt cephalodactyly [MeSH Supplementary Concept]
See also
- Twist-Related Protein 1 [MeSH Descriptor]
- receptor, fibroblast growth factor, type 2 [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalosyndactylia [PASCAL descriptor]
- Acrocephalosyndactyly [ORDO Disease]
- Acrocephalosyndactyly [ICD-9 code]
- Acrocephalosyndactyly [MedDRA Preferred Term]
- Acrocephalosyndactyly [NCIt concept]
- Acrocephalosyndactyly [MedDRA LLT]
- Acrocephalosyndactyly (disorder) [SNOMED CT concept]
- acrocephalosyndactylia [DO Concept]
- acrocephalosyndactylia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Saethre Chotzen syndrome [Disease (Nov.)]
- Saethre-Chotzen syndrome (disorder) [SNOMED CT concept]
- Type I Acrocephalosyndactyly [NCIt concept]
- Type II Acrocephalopolysyndactyly [NCIt concept]
- Type III Acrocephalosyndactyly [NCIt concept]

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