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763615003: Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643031010 Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3643032015 Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
3643033013 A developmental anomaly with characteristics as birth of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Some 3
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 3
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Interprets Adaptation behaviour true Inferred relationship Some 4
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 4
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a Right aortic arch true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a Intellectual disability true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Associated morphology Transposition, right true Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Finding site Aortic arch structure true Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Finding site Face structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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