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52868006: Oral-facial-digital syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
87975013 Oral-facial-digital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
87977017 Orodigitofacial dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496463018 Orofacial-digital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
790924016 Oral-facial-digital syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
87975013 Oral-facial-digital syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
87975013 Oral-facial-digital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
87976014 OFD syndrome type I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
87977017 Orodigitofacial dysostosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
87977017 Orodigitofacial dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
87978010 Papillon-Léage and Psaume syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
87978010 Papillon-Léage and Psaume syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
496463018 Orofacial-digital syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
496463018 Orofacial-digital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496464012 Orofacial-digital syndrome I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
496465013 Papillon-Leage-Psaume syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
496466014 Papillon-Leage syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
496467017 OFD I - Orofacial-digital syndrome I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
790924016 Oral-facial-digital syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
790924016 Oral-facial-digital syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3418851001000116 Oro-fazio-digitales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6915451000241111 syndrome oro-facio-digital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6915451000241111 syndrome oro-facio-digital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418851001000116 Oro-fazio-digitales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


14 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oral-facial-digital syndrome Is a Ectodermal dysplasia with hair-tooth defects false Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Is a Disorder of soft tissue of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oral-facial-digital syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oral-facial-digital syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oral-facial-digital syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oral-facial-digital syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oral-facial-digital syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oral-facial-digital syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oral-facial-digital syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oral-facial-digital syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oral-facial-digital syndrome Is a Ectodermal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Is a Congenital abnormality of oral cavity true Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Is a Congenital anomaly of digit true Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Finding site Structure of internal part of mouth true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Finding site Structure of internal part of mouth false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oral-facial-digital syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oral-facial-digital syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oral-facial-digital syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oral-facial-digital syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oral-facial-digital syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Orofacial-digital syndrome III Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Orofacial-digital syndrome IV Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Mohr syndrome Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with orofaciodigital defect Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 10 Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 5 Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 8 Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 1 Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 12 Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 13 Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 14 (disorder) Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder) Is a True Oral-facial-digital syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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