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763615003: syndrome d'arc aortique anormal-dysmorphie-déficience intellectuelle (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3643032015 Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
766251000241110 syndrome d'arc aortique anormal-dysmorphie-déficience intellectuelle (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
869301000172117 syndrome d'arc aortique anormal-dysmorphie-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) 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 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) Right aortic arch true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) morphologie associée (attribut) Transposition, right true Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) arc aortique (structure corporelle) true Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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