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720640005: Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)


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
3320443015 Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320444014 Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320651011 Burn McKeown syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402451016 A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402452011 A rare multiple congenital anomaly syndrome characterised by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3320443015 Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3320443015 Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320444014 Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3320444014 Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320651011 Burn McKeown syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321970010 An extremely rare multiple congenital anomaly syndrome with characteristics of bilateral choanal atresia associated with cranio-facial dysmorphism, that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlap considerably with those of the CHARGE syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402451016 A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402452011 A rare multiple congenital anomaly syndrome characterised by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3409331001000113 Burn-McKeown-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
926871000172111 syndrome de Burn-McKeown fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
939941000172119 syndrome d'atrésie des choanes-surdité-cardiopathie-dysmorphie craniofaciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
926871000172111 syndrome de Burn-McKeown fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
939941000172119 syndrome d'atrésie des choanes-surdité-cardiopathie-dysmorphie craniofaciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409331001000113 Burn-McKeown-Syndrom 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
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Congenital anomaly of skull true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Choanal atresia true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Hearing loss associated with syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Finding site Structure of choana false Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Finding site Structure of choana true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Finding site Structure of auditory system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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