Orofaciodigital syndrome VIII

Preferred Label : Orofaciodigital syndrome VIII;

Symbol : OFD8;

CISMeF acronym : OFD8;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Oral-facial-digital syndrome, type VIII; Oral-facial-digital syndrome with hypoplastic epiglottis; Edwards syndrome; Ofds VIII;

Inheritance : X-linked recessive;

Prefixed ID : %300484;

Détails

Origin ID

300484;

UMLS CUI

C0796101;

Automatic exact mappings (from CISMeF team)
- Complete Trisomy 18 Syndrome [NCIt concept]
- Complete trisomy 18 [ICD-11 Subcategory]
- Complete trisomy 18 syndrome (disorder) [SNOMED CT concept]
- Edward's syndrome [MedDRA LLT]
- Edwards syndrome [PASCAL descriptor]
- Edwards syndrome [DO Concept]
- Edwards' syndrome [ICD-9 code]
- Edwards' syndrome [MedDRA LLT]
- Trisomy 18 [MedDRA Preferred Term]
- Trisomy 18 [ORDO Disease]
- Trisomy 18 Syndrome [MeSH Descriptor]
- edwards syndrome [EMDN type]
- juberg hayward syndrome [MeSH Supplementary Concept]
CISMeF manual mappings
- Oro-facial digital syndrome type 8 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 8 [ICD-11 More detail]
- Orofaciodigital syndrome type 8 [ORDO Disease]
- orofaciodigital syndrome 8 [MeSH concept]
- orofaciodigital syndrome 8 [MeSH Supplementary Concept]
- orofaciodigital syndrome VIII [DO Concept]
DO Cross reference
- orofaciodigital syndrome VIII [DO Concept]
HPO term(s)
- Bifid nasal tip [HPO term]
- Broad nasal tip [HPO term]
- Cleft palate [HPO term]
- Global developmental delay [HPO term]
- Hamartoma [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the epiglottis [HPO term]
- Median cleft lip [HPO term]
- Milia [HPO term]
- Polydactyly [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Short stature [HPO term]
- Short tibia [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Telecanthus [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 8 [ORDO Disease]
See also inter- (CISMeF)
- Edwards syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oro-facial digital syndrome type 8 (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome type 8 [ORDO Disease]
- orofaciodigital syndrome 8 [MeSH Supplementary Concept]
- orofaciodigital syndrome 8 [MeSH concept]
- orofaciodigital syndrome VIII [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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