718574003: syndroom van palatoschisis, coloboom en doofheid (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Abruzzo Erickson syndrome
• \Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
• \Head finding (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
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Abruzzo Erickson syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \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
• \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 (finding)\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (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 (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 (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 (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 (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Abruzzo Erickson syndrome
• \Ear and auditory finding (finding)\Hearing finding (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 (finding)\Hearing finding (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\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Abruzzo Erickson syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\...
• \Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\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 (disorder)\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\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\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 (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Abruzzo Erickson syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Abruzzo Erickson syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\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 hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Abruzzo Erickson syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\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 (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Abruzzo Erickson syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Mixed conductive AND 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 malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Abruzzo Erickson syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Abruzzo Erickson syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Abruzzo Erickson syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Abruzzo Erickson syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

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
6115381000146111	palatoschisis-coloboom-doofheid-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6115391000146113	CHARGE-achtig syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6115411000146113	syndroom van Abruzzo-Erickson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6115421000146115	gespleten gehemelte-coloboom-doofheid-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6675191000146115	syndroom van palatoschisis, coloboom en doofheid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6675201000146118	syndroom van palatoschisis, coloboom en doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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