718574003: Cleft palate with coloboma of eye and deafness syndrome (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Abruzzo Erickson syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	Cleft palate	true	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	Congenital ocular coloboma (disorder)	true	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Abruzzo Erickson syndrome	Finding site	Ear structure	true	Inferred relationship	Some	3
Abruzzo Erickson syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	4
Abruzzo Erickson syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Abruzzo Erickson syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	4
Abruzzo Erickson syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	3
Abruzzo Erickson syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Abruzzo Erickson syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Abruzzo Erickson syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Abruzzo Erickson syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Abruzzo Erickson syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	2
Abruzzo Erickson syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Abruzzo Erickson syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	1
Abruzzo Erickson syndrome	Finding site	Eye structure	true	Inferred relationship	Some	2
Abruzzo Erickson syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Abruzzo Erickson syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Abruzzo Erickson syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Abruzzo Erickson syndrome	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	3
Abruzzo Erickson syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Abruzzo Erickson syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Abruzzo Erickson syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	5
Abruzzo Erickson syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
Abruzzo Erickson syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Abruzzo Erickson syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	5
Abruzzo Erickson syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	Congenital mixed conductive and sensorineural hearing loss	true	Inferred relationship	Some
Abruzzo Erickson syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Abruzzo Erickson syndrome	Is a	X-linked sensorineural hearing loss	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3312811015	Abruzzo Erickson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312812010	CHARGE-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312814011	Cleft palate with coloboma of eye and deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312815012	Cleft palate with coloboma of eye and deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312813017	A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10615281000172116	syndrome de fente palatine avec colobome de l'œil et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10615291000172118	syndrome de fente palatine avec colobome oculaire et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4050851000172116	palatoschisis-coloboom-doofheid-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4050861000172119	CHARGE-achtig syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4050871000172111	gespleten gehemelte-coloboom-doofheid-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4050881000172114	syndroom van palatoschisis, coloboom en doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4050891000172112	syndroom van Abruzzo-Erickson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)