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

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Orofacial cleft\Cleft palate\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Abruzzo Erickson syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Abruzzo Erickson syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Abruzzo Erickson syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome

\Hearing loss\Hearing loss associated with syndrome\Abruzzo Erickson syndrome
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Hearing loss\Sensorineural hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Hearing loss\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Abruzzo Erickson syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Abruzzo Erickson syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Abruzzo Erickson syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Abruzzo Erickson syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Abruzzo Erickson syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Disorder of head\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Abruzzo Erickson syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Abruzzo Erickson syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Abruzzo Erickson syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Abruzzo Erickson syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Abruzzo Erickson syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Abruzzo Erickson syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3312811015 Abruzzo Erickson syndrome en Synonym Active Case sensitive SNOMED CT core

3312812010 CHARGE-like syndrome en Synonym Active Case sensitive SNOMED CT core

3312814011 Cleft palate with coloboma of eye and deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3312815012 Cleft palate with coloboma of eye and deafness syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Abruzzo Erickson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Abruzzo Erickson syndrome	Pathological process	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	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	false	Inferred relationship	Some	5
Abruzzo Erickson syndrome	Pathological process	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
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	Coloboma of eye	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	false	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	Hereditary disorder of the visual system	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	true	Inferred relationship	Some	1
Abruzzo Erickson syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Abruzzo Erickson syndrome	Associated morphology	Developmental failure of fusion	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3312811015	Abruzzo Erickson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3312812010	CHARGE-like syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3312814011	Cleft palate with coloboma of eye and deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3312815012	Cleft palate with coloboma of eye and deafness syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core