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

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

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

4186181000052112 syndrom med anomali i aortabågen, ansiktsmissbildning och intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	Right aortic arch	true	Inferred relationship	Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Associated morphology	Transposition, right	true	Inferred relationship	Some	2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Finding site	Aortic arch structure	true	Inferred relationship	Some	2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
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)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
4186181000052112	syndrom med anomali i aortabågen, ansiktsmissbildning och intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)