orofaciodigital syndromes

Preferred Label : orofaciodigital syndromes;

MeSH definition : Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.;

MeSH synonym : syndrome, orofaciodigital; orofaciodigital syndrome; syndromes, orofaciodigital; Oral-Facial-Digital syndrome; orodigitofacial dysostosis; orodigitofacial syndrome; dysplasia linguofacialis; Oro-Facio-Digital syndrome;

MeSH hyponym : mohr syndrome; Papillon-Leage and psaume syndrome; Papillon Leage and Psaume Syndrome; Oral-Facial-Digital Syndrome, Type I; Oral Facial Digital Syndrome, Type I; Orofaciodigital Syndrome I; Orofaciodigital Syndrome Is; Gorlin-Psaume Syndrome; Gorlin Psaume Syndrome; Syndrome, Gorlin-Psaume; Syndrome, Mohr; Orofaciodigital Syndrome II; Orofaciodigital Syndrome IIs; Oral-Facial-Digital Syndrome, Type II; Oral Facial Digital Syndrome, Type II;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

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

Details

Origin ID

D009958;

UMLS CUI

C0029294;

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)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
- Mohr syndrome [PASCAL descriptor]
- Mohr syndrome [MedDRA LLT]
- Mohr syndrome (disorder) [SNOMED CT concept]
- Oral-facial-digital syndrome type II [MedDRA Preferred Term]
- Orofaciodigital syndrome [OMIM phenotypic series]
- Orofaciodigital syndrome type 2 [ORDO Disease]
- mohr syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome [ICD-11 Sub-sub category]
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]
- Oro-facial digital syndrome type 1 (disorder) [SNOMED CT concept]
- Orofacial digital syndrome [ACR pathology]
- Orofaciodigital Syndrome Type 1 [NCIt concept]
- Orofaciodigital syndrome [PASCAL descriptor]
- Orofaciodigital syndrome [ORDO Disease]
- Orofaciodigital syndrome type 1 [ORDO Disease]
- oral-facial-digital syndrome [SNOMED Notion]
- orofaciodigital syndrome [DO Concept]
- orofaciodigital syndrome I [DO Concept]
- orofaciodigital syndrome type 1 [Disease (Nov.)]
DO Cross reference
- orofaciodigital syndrome [DO Concept]
- orofaciodigital syndrome I [DO Concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
- Low nasal bridge [HPO term]
Manual BTNT mappings - CISMeF
- Orofaciodigital syndrome type 10 [ORDO Disease]
- Orofaciodigital syndrome type 11 [ORDO Disease]
- Orofaciodigital syndrome type 12 [ORDO Disease]
- Orofaciodigital syndrome type 13 [ORDO Disease]
- Orofaciodigital syndrome type 2 [ORDO Disease]
- Orofaciodigital syndrome type 3 [ORDO Disease]
- Orofaciodigital syndrome type 4 [ORDO Disease]
- Orofaciodigital syndrome type 5 [ORDO Disease]
- Orofaciodigital syndrome type 6 [ORDO Disease]
- Orofaciodigital syndrome type 9 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Branchial arch or oral-acral syndrome [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Genetic branchial arch or oral-acral syndrome [ORDO Disease]
- Genetic sebaceous gland anomaly [ORDO Disease]
- Oromandibular-limb anomalies syndrome [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Sebaceous gland anomaly [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
Record concept(s)
- Papillon-Leage and psaume syndrome [MeSH concept]
- mohr syndrome [MeSH concept]
- orofaciodigital syndromes [MeSH concept]
Related MeSH Supplementary Concept(s)
- juberg hayward syndrome [MeSH Supplementary Concept]
- oral-facial-digital syndrome, type 2 [MeSH Supplementary Concept]
- orofaciodigital syndrome 11 [MeSH Supplementary Concept]
- orofaciodigital syndrome 12 [MeSH Supplementary Concept]
- orofaciodigital syndrome 13 [MeSH Supplementary Concept]
- orofaciodigital syndrome 3 [MeSH Supplementary Concept]
- orofaciodigital syndrome 4 [MeSH Supplementary Concept]
- orofaciodigital syndrome 5 [MeSH Supplementary Concept]
- orofaciodigital syndrome 6 [MeSH Supplementary Concept]
- orofaciodigital syndrome 8 [MeSH Supplementary Concept]
- orofaciodigital syndrome 9 [MeSH Supplementary Concept]
- orofaciodigital syndrome VII [MeSH Supplementary Concept]
- orofaciodigital syndrome X [MeSH Supplementary Concept]
- orofaciodigital syndrome type1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oral-facial-digital syndrome (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome [ORDO Disease]
- orofaciodigital syndrome [DO Concept]
Validated automatic mappings to BTNT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Oral-facial-digital syndrome type 1 [ICD-11 More detail]
- Orofaciodigital syndrome I [OMIM Phenotype]
- Orofaciodigital syndrome II [OMIM Phenotype]
- Orofaciodigital syndrome III [OMIM Phenotype]
- Orofaciodigital syndrome V [OMIM Phenotype]
- Orofaciodigital syndrome X [OMIM Phenotype]
- Orofaciodigital syndrome type 7 [ORDO Disease]
- mohr syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]

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