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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
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Myelocele with hydrocephalus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hydromyelocele with hydrocephalus Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Cervical myelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
hydromyélocèle Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Cervical hydromyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Lumbar hydromyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Thoracic hydromyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Lumbar myelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Thoracic myelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Hydromyelocele with hydrocephalus Associated morphology False Morphologically abnormal structure Inferred relationship Some 6
Cervical myelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
hydromyélocèle Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Cervical hydromyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Lumbar hydromyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Thoracic hydromyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Lumbar myelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Thoracic myelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Cyanotic congenital heart disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bone turnover rate disorder Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hemimyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Acquired abnormality of mitral subvalvular apparatus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal spina bifida (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of umbilical artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital aganglionic megacolon Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Long segment Hirschsprung's disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Short segment Hirschsprung's disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Total intestinal aganglionosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Mowat-Wilson syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Associated morphology True Morphologically abnormal structure Inferred relationship Some 8
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. Associated morphology True Morphologically abnormal structure Inferred relationship Some 7
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Hirschsprung disease of rectosigmoid region (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Extensive aganglionosis Hirschsprung disease (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Associated morphology True Morphologically abnormal structure Inferred relationship Some 7
Aganglionosis of Auerbach's plexus Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital paucity of intrahepatic bile ducts (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired paucity of intrahepatic bile ducts (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Sacral dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Supernumerary structure Is a True Morphologically abnormal structure Inferred relationship Some
Congenital anomaly of lobe of ear Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anterior open bite Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Posterior open bite Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Open bite Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Anterior crossbite Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Class II buccal segment relationship - half unit Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Anterior crossbite involving multiple teeth (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Anterior crossbite involving single tooth Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Asymmetric maxillary arch Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Asymmetric mandibular arch form Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Left posterior open bite Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of biliary tract Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of semicircular canal Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of vestibule of inner ear Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral primary congenital glaucoma Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral primary congenital glaucoma Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of internal auditory canal Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of cochlea Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple congenital defects of vertebral segmentation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Renal tubular dysgenesis due to twin to twin transfusion Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Renal tubular dysgenesis caused by drug Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Embryofetopathy caused by infection (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Placenta circummarginate (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Placenta circummarginate (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental anomaly of bilateral pleurae (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Developmental anomaly of bilateral pleurae (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Developmental anomaly of periodontal tissue Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of patella (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterised by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare disorder characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Abnormal form of articular disk of temporomandibular joint Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dieulafoy vascular malformation of duodenum (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Peripheral venous malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Nance-Horan syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Abnormal form of temporomandibular joint fossa Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Long axis of fetal heart deviated to left (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Long axis of fetal heart deviated to right (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dieulafoy vascular malformation of stomach (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Renal tubular dysgenesis (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Juvenile osteochondrosis of the secondary patellar center Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Juvenile osteochondrosis of the foot (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hitch-hiker thumb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Juvenile osteochondrosis of lower extremity, excluding foot Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Juvenile osteochondrosis of lower extremity (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Trochlear notch incongruity (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Malformation of tooth (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Primary congenital glaucoma (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Juvenile osteochondrosis of right tarsal navicular (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of left tarsal navicular Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of left second metatarsal Associated morphology True Morphologically abnormal structure Inferred relationship Some 3

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