FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

766761000: X-linked cleft palate and ankyloglossia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662533017 X-linked cleft palate and ankyloglossia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662534011 X-linked cleft palate and ankyloglossia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404651014 X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404652019 X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterised by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662533017 X-linked cleft palate and ankyloglossia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662534011 X-linked cleft palate and ankyloglossia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662535012 A rare genetic developmental defect during embryogenesis syndrome with characteristics of the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (for example absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (for example buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404651014 X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404652019 X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterised by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3383111001000111 X-chromosomale Gaumenspalte mit Ankyloglossie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886541000172117 fente palatine et ankyloglossie liées à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886541000172117 fente palatine et ankyloglossie liées à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383111001000111 X-chromosomale Gaumenspalte mit Ankyloglossie 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
X-linked cleft palate and ankyloglossia (disorder) Is a Tongue tie true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Is a Cleft palate true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked cleft palate and ankyloglossia (disorder) Finding site Structure of frenulum linguae true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked cleft palate and ankyloglossia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked cleft palate and ankyloglossia (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked cleft palate and ankyloglossia (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Is a X-linked hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Associated morphology Abnormally short and broad growth (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked cleft palate and ankyloglossia (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked cleft palate and ankyloglossia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked cleft palate and ankyloglossia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked cleft palate and ankyloglossia (disorder) Is a Palate finding false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked cleft palate and ankyloglossia (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked cleft palate and ankyloglossia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked cleft palate and ankyloglossia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked cleft palate and ankyloglossia (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start