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1222706005: Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5400024019 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400025018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048597010 Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048598017 MRAMS (mental retardation, anterior maxillary protrusion, strabismus) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048599013 Anterior maxillary protrusion, strabismus, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048600011 MRAMS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
7758781000241119 syndrome MRAMS (mental retardation, anterior maxillary protrusion, strabismus) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7758791000241117 syndrome de protrusion maxillaire antérieure, strabisme et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
523891000274116 MRAMS-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412031001000115 Vordere Oberkieferprotrusion-Strabismus-Intelligenzminderung-Syndrom 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
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Developmental hereditary disorder true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Hereditary disorder of tooth true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Crowding of teeth true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Congenital anomaly of maxilla true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Maxillary prognathism true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Strabismus true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Open bite true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Hereditary disorder of the visual system true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Severe intellectual disability (disorder) true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Vertical maxillary excess true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Congenital prognathism true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Multiple system malformation syndrome true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Some 5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Occurrence Congenital true Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Finding site Anterior segment of maxilla true Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Associated morphology Protrusion true Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Finding site Dentition true Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Associated morphology Malposition (morphologic abnormality) true Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Finding site Dentition true Inferred relationship Some 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Associated morphology Malocclusion (morphologic abnormality) true Inferred relationship Some 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Finding site Bone structure of maxilla true Inferred relationship Some 6
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Associated morphology Growth alteration true Inferred relationship Some 6
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Has interpretation Impaired true Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Interprets Intellectual ability true Inferred relationship Some 7
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Has interpretation Impaired true Inferred relationship Some 7
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a Genetic intellectual disability true Inferred relationship Some

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