FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of mitral valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Celosomus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Irido-trabecular dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of nasal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Septo-optic dysplasia sequence Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Incontinentia pigmenti syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of cerebrum (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Double outlet right ventricle with subpulmonary ventricular septal defect (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Double outlet right ventricle with subaortic ventricular septal defect Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital billowing of mitral valve leaflet (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Criss-cross heart with leftward rotation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital ureteric valves Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital deformity of right finger Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of hair Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Arterial anomaly of umbilical cord Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cystic eyeball (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Gonadal dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Mobile cecum Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital tarsal kink (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Venous valvular anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Port-wine stain with associated anomalies (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Stenosis of systemic to pulmonary artery collateral artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Stenosis of systemic to pulmonary artery collateral artery Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of ischium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Rutland ciliary disorientation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of brain Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Common atrioventricular valve in functionally univentricular heart (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Common atrioventricular valve in functionally univentricular heart (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Interruption of aortic arch distal to subclavian artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pseudo-polycoria Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of musculoskeletal system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple congenital anomalies of fetus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Benign congenital hypotonia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital deformity of right lower limb Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of metacarpal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Oro-facial digital syndrome type 10 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Oro-facial digital syndrome type 10 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Oro-facial digital syndrome type 10 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Multiple malformation syndrome with limb defect as major feature Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Allemann's syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facioscapulohumeral muscular dystrophy (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital trigger thumb of left hand Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Defect of telencephalic division Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Defect of telencephalic division Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Duane's syndrome, type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome, type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Specific mixed vascular syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Glycogenosis with glucoaminophosphaturia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral closed ductus arteriosus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Rudimentary uterus in male Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital mandibular asymmetry Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ambiguous genitalia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of pulmonary artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of centrum of lumbar vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Genitopatellar syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Short preputial frenulum Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Short preputial frenulum Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hereditary vascular fragility Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cystic lung Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hecht syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of the eyebrow Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cleft of cardiac valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Common atrioventricular orifice in double inlet ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Craniometaphyseal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Wooly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anisocoria Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bayonet hair Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Double outlet right ventricle with noncommitted ventricular septal defect Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ethmocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

Start Previous Page 109 of 140 Next End

This concept is not in any reference sets

Back to Start