719468005: Cleft palate with stapes fixation and oligodontia syndrome (disorder)

\Disorder of soft tissue of head\Cleft of soft palate (disorder)\Cleft palate with stapes fixation and oligodontia syndrome (disorder)

\Soft tissue lesion\Cleft of soft palate (disorder)\Cleft palate with stapes fixation and oligodontia syndrome (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3316253012 Cleft palate with stapes fixation and oligodontia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316254018 Cleft palate with stapes fixation and oligodontia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316457010 Syndrome with characteristics of cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3897951000052110 syndrom med kluven gom, fixering av stigbygel och partiell tandlöshet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Congenital abnormal number	false	Inferred relationship	Some	5
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	7
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Congenital anomaly of pharynx	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Disorder of oral soft tissues (disorder)	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Congenital fusion of ossicles of ear	true	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Partial congenital absence of teeth	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Cleft palate	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Anodontia of primary dentition	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Disorder of nasopharynx	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Disorder of oropharynx (disorder)	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Congenital abnormality of nose and nasopharynx	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Entire deciduous tooth	false	Inferred relationship	Some	5
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Entire deciduous tooth	false	Inferred relationship	Some	7
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	medfödd utebliven fusion	false	Inferred relationship	Some	6
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Soft palate structure	false	Inferred relationship	Some	6
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	4
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Stapes structure	true	Inferred relationship	Some	4
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Soft palate structure	true	Inferred relationship	Some	1
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Cleft of soft palate (disorder)	true	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Entire deciduous tooth	false	Inferred relationship	Some	2
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	2
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Entire deciduous tooth	false	Inferred relationship	Some	3
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Congenital abnormal number	false	Inferred relationship	Some	3
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Palate finding	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	5
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Some	5
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	2
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Developmental absence of tooth	true	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Congenital abnormal number	true	Inferred relationship	Some	2
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Dentition	true	Inferred relationship	Some	3
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	3
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Finding site	Tooth structure	true	Inferred relationship	Some	2
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	Oligodontia	true	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	Fusion	true	Inferred relationship	Some	4

Inbound Relationships

Characteristic

Refinability

Reference Sets

Id	Description	Lang	Type	Status	Case?	Module
3316253012	Cleft palate with stapes fixation and oligodontia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316254018	Cleft palate with stapes fixation and oligodontia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316457010	Syndrome with characteristics of cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3897951000052110	syndrom med kluven gom, fixering av stigbygel och partiell tandlöshet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)