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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3320444014 Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome en Synonym Active Case insensitive SNOMED CT core
3320651011 Burn McKeown syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Finding site Bone structure of cranium true Inferred relationship Some 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Associated morphology Congenital atresia true Inferred relationship Some 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Finding site Structure of choana true Inferred relationship Some 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Finding site Structure of auditory system false Inferred relationship Some 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Interprets Hearing false Inferred relationship Some 4
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Congenital hearing disorder false Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Congenital anomaly of skull true Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Choanal atresia true Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Hearing loss associated with syndrome false Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Finding site Ear structure false Inferred relationship Some 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Finding site Bone structure of cranium false Inferred relationship Some 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Associated morphology Congenital atresia false Inferred relationship Some 4
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 4
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Finding site Structure of choana false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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