mandibulofacial dysostosis

Preferred Label : mandibulofacial dysostosis;

MeSH definition : A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed); A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed); A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed);

MeSH synonym : syndrome, treacher collins; dysostosis, mandibulofacial; treacher collins syndrome; dysostoses, mandibulofacial; mandibulofacial dysostoses; treacher Collins-Franceschetti syndrome; Franceschetti-Zwahlen-Klein syndrome; Franceschetti Zwahlen Klein Syndrome; Franceschetti-Zwahlen-Klein Syndromes; Syndrome, Franceschetti-Zwahlen-Klein; Syndromes, Franceschetti-Zwahlen-Klein; Syndrome, Treacher Collins-Franceschetti; Syndromes, Treacher Collins-Franceschetti; Treacher Collins Franceschetti Syndrome; Treacher Collins-Franceschetti Syndromes;

CISMeF synonym : collins syndrome, treacher; mandibulofacial dysostosis (MFD1);

MeSH hyponym : Dysostoses, Mandibulofacial (MFD1); Dysostosis, Mandibulofacial (MFD1); Mandibulofacial Dysostoses (MFD1); MFD1 Mandibulofacial Dysostosis; Dysostoses, MFD1 Mandibulofacial; Dysostosis, MFD1 Mandibulofacial; MFD1 Mandibulofacial Dysostoses; Mandibulofacial Dysostoses, MFD1; Mandibulofacial Dysostosis, MFD1;

MeSH annotation : a form of craniofacial dysostosis; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Treacher Collins syndrome;

Details

Origin ID

D008342;

UMLS CUI

C0242387;

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)
- Mandibulofacial dysostosis [ICD-11 More detail]
- Treacher collins syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Franceschetti's syndrome [MedDRA LLT]
- Franceschetti-Klein syndrome (disorder) [SNOMED CT concept]
- Mandibulofacial dysostosis [PASCAL descriptor]
- Mandibulofacial dysostosis [ICD-10 Sub-category]
- Mandibulofacial dysostosis [ICD-10 Sub-category (who)]
- Mandibulofacial dysostosis [HPO term]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Mandibulofacial dysostosis [ORDO Disease]
- Treacher Collins Syndrome [NCIt concept]
- Treacher Collins syndrome [DO Concept]
- Treacher Collins syndrome [PASCAL descriptor]
- Treacher Collins syndrome (disorder) [SNOMED CT concept]
- Treacher collins syndrome 1 [OMIM Phenotype]
- Treacher-Collins syndrome [ICD-11 More detail]
- Treacher-Collins syndrome [ORDO Disease]
- Treacher-Collins' syndrome [MedDRA LLT]
- franceschetti-klein syndrome [SNOMED Notion]
- mandibulofacial dysostosis [Disease (Nov.)]
- treacher collins syndrome [SNOMED Notion]
DO Cross reference
- Treacher Collins syndrome [DO Concept]
HPO term
- Mandibulofacial dysostosis [HPO term]
Indexing information
- TCOF1 protein, human [MeSH Supplementary Concept]
- Tcof1 protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Branchial arch or oral-acral syndrome [ORDO Disease]
- Eyebrow/eyelashes distichiasis [ORDO Disease]
- Genetic branchial arch or oral-acral syndrome [ORDO Disease]
- Otomandibular dysplasia [ORDO Disease]
- Pierre Robin syndrome associated with branchial archs anomalies [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- Syndromic eyelid coloboma [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic outer canthal malposition [ORDO Disease]
ORDO relation(s)
- Mandibulofacial dysostosis [ORDO Disease]
Record concept(s)
- Mandibulofacial Dysostosis (MFD1) [MeSH concept]
- mandibulofacial dysostosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- Genee-Wiedemann syndrome [MeSH Supplementary Concept]
- acrofacial dysostosis catania form [MeSH Supplementary Concept]
- acrofacial dysostosis rodriguez type [MeSH Supplementary Concept]
- acrofacial dysostosis, nager type [MeSH Supplementary Concept]
- acrofacial dysostosis, palagonia type [MeSH Supplementary Concept]
- acrofrontofacionasal dysostosis syndrome [MeSH Supplementary Concept]
- acromelic frontonasal dysostosis [MeSH Supplementary Concept]
- branchial arch syndrome X-linked [MeSH Supplementary Concept]
- growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [MeSH Supplementary Concept]
- mandibulofacial dysostosis with mental deficiency [MeSH Supplementary Concept]
- mandibulofacial dysostosis with ptosis, autosomal dominant [MeSH Supplementary Concept]
- mandibulofacial dysostosis, treacher collins type, autosomal recessive [MeSH Supplementary Concept]
- opitz reynolds fitzgerald syndrome [MeSH Supplementary Concept]
- patterson stevenson syndrome [MeSH Supplementary Concept]
- richieri costa Guion-Almeida syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Franceschetti's syndrome [MedDRA LLT]
- Mandibulofacial dysostosis [ORDO Disease]
- Mandibulofacial dysostosis [ICD-10 Sub-category]
- Mandibulofacial dysostosis [HPO term]
- Mandibulofacial dysostosis [ICD-10 Sub-category (who)]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Mandibulofacial dysostosis [PASCAL descriptor]
- Treacher Collins Syndrome [NCIt concept]
- Treacher Collins syndrome [DO Concept]
- Treacher Collins syndrome [PASCAL descriptor]
- Treacher Collins syndrome (disorder) [SNOMED CT concept]
- Treacher collins syndrome 1 [OMIM Phenotype]
- Treacher-Collins syndrome [ORDO Disease]
- Treacher-Collins' syndrome [MedDRA LLT]
- mandibulofacial dysostosis [Disease (Nov.)]
- treacher collins syndrome [SNOMED Notion]

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