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48641006: Congenital malrotation (morphologic abnormality)

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

Descriptions:

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

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital malrotation Is a Congenital malposition false Inferred relationship Some
Congenital malrotation Is a Malposition (morphologic abnormality) true Inferred relationship Some
Congenital malrotation Is a anomalie du développement false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Malrotation of cecum Associated morphology True Congenital malrotation Inferred relationship Some 1
Congenital malrotation of limb Associated morphology True Congenital malrotation Inferred relationship Some 1
Talipes equinus Associated morphology False Congenital malrotation Inferred relationship Some 4
Familial intestinal malrotation Associated morphology True Congenital malrotation Inferred relationship Some 2
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Associated morphology False Congenital malrotation Inferred relationship Some 7
Congenital malrotation of duodenum (disorder) Associated morphology True Congenital malrotation Inferred relationship Some 1
Malrotation of colon and caecum Associated morphology True Congenital malrotation Inferred relationship Some 1
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Associated morphology True Congenital malrotation Inferred relationship Some 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 Some 5
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Associated morphology True Congenital malrotation Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized 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 Some 4
Dandy-Walker syndrome Associated morphology True Congenital malrotation Inferred relationship Some 3
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Associated morphology True Congenital malrotation Inferred relationship Some 2
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Associated morphology True Congenital malrotation Inferred relationship Some 3
Dandy-Walker syndrome with spina bifida Associated morphology True Congenital malrotation Inferred relationship Some 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 Some 3
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Associated morphology True Congenital malrotation Inferred relationship Some 2
Congenital malrotation of heart Associated morphology True Congenital malrotation Inferred relationship Some 1
Congenital malrotation of large intestine Associated morphology True Congenital malrotation Inferred relationship Some 1
Malrotation of small intestine Associated morphology True Congenital malrotation Inferred relationship Some 1

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