48641006: Congenital malrotation (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure\Mechanical abnormality (morphologic abnormality)\Displacement\Malposition (morphologic abnormality)\Congenital malrotation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malrotation	Is a	Congenital malposition	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malrotation	Is a	Malposition (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital malrotation	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Malrotation of caecum	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malrotation of limb	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Talipes equinus	Associated morphology	False	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Familial intestinal malrotation	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Associated morphology	False	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Congenital malrotation of duodenum (disorder)	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Malrotation of colon and caecum	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Dandy-Walker syndrome (disorder)	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder)	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pettigrew syndrome	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dandy-Walker syndrome with spina bifida	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	2
malrotation cardiaque congénitale	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital malrotation of large intestine	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Malrotation of small intestine (disorder)	Associated morphology	True	Congenital malrotation	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Id	Description	Lang	Type	Status	Case?	Module
81050015	Congenital malrotation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786232011	Congenital malrotation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
81050015	Congenital malrotation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
81050015	Congenital malrotation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786232011	Congenital malrotation (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
786232011	Congenital malrotation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core