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49755003: Morphologically abnormal structure (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
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5223 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Uterus cordiformis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital subluxation of carpus Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital pericardial defect (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Dysgenesis of the cerebellum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ear osseous meatus atresia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Macromelia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of sternocleidomastoid muscle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of left ear (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital claw foot Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Aortic orifice posterior with respect to pulmonary orifice (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Intermediate X-linked muscular dystrophy Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital coronary artery calcification Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Dumbbell-shaped cartilaginous centrum of thoracic vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dumbbell-shaped cartilaginous centrum of thoracic vertebra Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Developmental anomaly of vitelline duct (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Persistent thyroglossal duct Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Nager syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Nager syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital laryngeal stridor Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of urethra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Female pseudohermaphroditism Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Female pseudohermaphroditism Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Female pseudohermaphroditism Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Encephalocele of orbit Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital abnormality of ductus arteriosus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Generalized macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of skin Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Indeterminate sex and pseudohermaphroditism Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Retroaortic brachiocephalic vein (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Retroaortic brachiocephalic vein (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Blepharophimosis syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Tilted optic disc Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Persistent aortic arch convolutions Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of rib Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Malformation of urachus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Interrupted aortic arch between left common carotid and brachiocephalic artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Imperforate right ventriculoarterial valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Rachischisis with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Capillary-venous-lymphatic malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Capillary-venous-lymphatic malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Capillary-venous-lymphatic malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect associated with tetralogy of Fallot (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Aplasia of muscle Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital hypothyroidism with diffuse goitre Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of premaxilla Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Accessory tissue on tricuspid leaflet Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of lung Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Mis-shapen spleen Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Rotational orbital dystopia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Anomalous portal vein termination Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spina bifida Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Rieger syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital primary pulmonary lymphangiectasis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital abnormality of left atrium (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Zellweger syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Holmes Gang syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Disorder of neuronal migration and differentiation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple neurofibromas in neurofibromatosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Multiple neurofibromas in neurofibromatosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Amelogenesis imperfecta, pigmented hypomaturation type (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
First arch syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital iodine deficiency syndrome of mixed type (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of bile ducts Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Enamel-renal syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of pleural folds Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Peutz-Jeghers syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Endemic cretinism Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical, vaginal and external female genital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervical, vaginal and external female genital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical, vaginal and external female genital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Myeloschisis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Myeloschisis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Solitary ventricle of indeterminate morphology (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cerebellar cortical dysplasia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Dysgenesis of the brainstem Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multiple anterior segment anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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