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718680001: Oro-facial digital syndrome type 9 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313177016 Oro-facial digital syndrome type 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313178014 Oro-facial digital syndrome type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313179018 Oral-facial-digital syndrome type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313180015 Orofaciodigital syndrome type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313182011 Orofaciodigital syndrome with retinal abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401809015 Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401810013 Oral-facial-digital syndrome, type 9 is characterised by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313177016 Oro-facial digital syndrome type 9 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313177016 Oro-facial digital syndrome type 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313178014 Oro-facial digital syndrome type 9 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313178014 Oro-facial digital syndrome type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313179018 Oral-facial-digital syndrome type 9 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313179018 Oral-facial-digital syndrome type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313180015 Orofaciodigital syndrome type 9 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313180015 Orofaciodigital syndrome type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313182011 Orofaciodigital syndrome with retinal abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313182011 Orofaciodigital syndrome with retinal abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313181016 Syndrome with characteristics of highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, forked metatarsal, poly and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Less than ten cases have been described in the literature. The causative gene has not yet been identified. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401809015 Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401810013 Oral-facial-digital syndrome, type 9 is characterised by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
601341000274116 Oro-fazio-digitales Syndrom mit retinalen Anomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433531001000114 Oro-fazio-digitales Syndrom Typ 9 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6435511000241117 OFD9 - syndrome oro-facio-digital de type 9 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6435521000241112 syndrome oro-facio-digital avec anomalies rétiniennes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6435531000241114 syndrome oro-facio-digital de type 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6435511000241117 OFD9 - syndrome oro-facio-digital de type 9 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6435521000241112 syndrome oro-facio-digital avec anomalies rétiniennes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6435531000241114 syndrome oro-facio-digital de type 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601341000274116 Oro-fazio-digitales Syndrom mit retinalen Anomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433531001000114 Oro-fazio-digitales Syndrom Typ 9 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oro-facial digital syndrome type 9 (disorder) Is a Congenital anomaly of retina true Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a Oral-facial-digital syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Oro-facial digital syndrome type 9 (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Oro-facial digital syndrome type 9 (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 8
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Oro-facial digital syndrome type 9 (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 9
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Oro-facial digital syndrome type 9 (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Oro-facial digital syndrome type 9 (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Oro-facial digital syndrome type 9 (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 9 (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 9 (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Oro-facial digital syndrome type 9 (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Oro-facial digital syndrome type 9 (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Oro-facial digital syndrome type 9 (disorder) Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 9 (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 9 (disorder) Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 9 (disorder) Finding site Structure of internal part of mouth true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 9 (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 9 (disorder) Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 9 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oro-facial digital syndrome type 9 (disorder) Finding site Structure of internal part of mouth false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 9 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 9 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 9 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 9 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Oro-facial digital syndrome type 9 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 9 (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oro-facial digital syndrome type 9 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 9 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oro-facial digital syndrome type 9 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 9 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 9 (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 9 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oro-facial digital syndrome type 9 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 9 (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 6
Oro-facial digital syndrome type 9 (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Oro-facial digital syndrome type 9 (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Oro-facial digital syndrome type 9 (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 8
Oro-facial digital syndrome type 9 (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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