FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.7-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

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
Congenital abnormality of vein Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Penoscrotal hypospadias (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Alacrima Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Biliary anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of supraoccipital bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral muscular infundibula Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Mulibrey nanism syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hemicentric lumbar centrum Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Carpenter Waziri syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Carpenter Waziri syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of ureter Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital portal-systemic shunt in which at least some portal blood perfuses the liver. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Cutaneous lesion resulting from spinal dysraphism (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of abdomen Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital structural abnormality of eyelid Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of sacral vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of basioccipital bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of the urinary tract proper (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Venous remnant Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia with sweating defect (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Sacral spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of fetus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Straddling tricuspid valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isomerism of left atrial appendage (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isomerism of left atrial appendage (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of ocular adnexa Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Diffuse lymphatic malformation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Café-au-lait macules with temporal dysrhythmia (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Bicornuate uterus - baby delivered Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of oral cavity Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Aortic orifice anterior right with respect to pulmonary orifice (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Inclusion body myopathy 2 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Beaked pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of orbit proper (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isolation of branch of aortic arch Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intracardiac location of anomalous pulmonary venous connection (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Regional odontodysplasia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Uncombable hair syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Low anorectal malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Abnormal atrial arrangement (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital anomaly of nervous system of head/neck Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital deformity of left upper limb (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital maxillary asymmetry Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of pulmonary valve cusp (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital urethral valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital subglottic web of larynx Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Congenital curly toes Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of descending thoracic aorta (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Interatrial communication through coronary sinus orifice (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Prader-Willi syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of talus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of jaw Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spina bifida of cervical region Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Naevus comedonicus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Sinus pericranii Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Swan's syndrome II Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Port-wine stain associated with spinal dysraphism (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Port-wine stain associated with spinal dysraphism (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of squamosal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Curry-Hall syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Marshall syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hydatid cyst of Morgagni - female Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Persistent descending vein Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Persistent descending vein Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of broad ligament Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypohidrosis with neurolabyrinthitis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2

Start Previous Page 96 of 140 Next End

This concept is not in any reference sets

Back to Start