FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.6  |  FHIR Version n/a  User: [n/a]

49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
495494014 Morphologically abnormal structure en Synonym Active Case insensitive SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core
82877014 Abnormal tissue appearance en Synonym Active Case insensitive SNOMED CT core

4996 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
Cerebro-costo-mandibular syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lowry MacLean syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myotubular myopathy with type I atrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of abdominal wall Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
46,XX disorder of sex development with anorectal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Right aortic arch branching pattern Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Merosin deficient congenital muscular dystrophy Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Double eyebrow Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Double eyebrow Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of the thyroid gland Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Edinburgh malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Imperforate left ventriculoarterial valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Oculofaciocardiodental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to coronary sinus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Venous-lymphatic malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Venous-lymphatic malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of pelvic bones Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Arachnodactyly and intellectual disability with facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Irido-corneal dysgenesis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Amelogenesis imperfecta and gingival hyperplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of uterus affecting obstetric care Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Horizontal orbital dystopia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Early onset myopathy with fatal cardiomyopathy Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Pericarditis co-occurrent and due to Mulibrey nanism Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Developmental anomaly of odontoid process of axis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal dominant osteopetrosis type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Leprechaunism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectodermal dysplasia with tooth-sweating defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked myopathy with excessive autophagy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Orbital separation diminished Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Uterus acollis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Platypellic pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of atria and atrial septum Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of upper digestive tract Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of renal pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Axillary freckling due to neurofibromatosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Axillary freckling due to neurofibromatosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Mondini defect Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Aortic orifice left side by side with respect to pulmonary orifice Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Amelogenesis imperfecta, hypoplastic type with microdontia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pleuropericardial cyst Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Oesophageal atresia, stenosis and fistula Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of maxilla Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectopic cilia of eyelid Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of aortic arch Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Macrophthalmos Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Bethlem myopathy Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Phenobarbital embryopathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of vitreous humour Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying part of right lung Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying part of right lung Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Ruvalcaba syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ruvalcaba syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Abnormal blue sclerae Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Caudal appendage deafness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Gorlin-Chaudhry-Moss syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilobed right lung Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Naevus anaemicus Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Levy-Hollister syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Thomas syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Thomas syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Isolation of subclavian artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Undescended testes - bilateral Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Pre-eruptive colour change of tooth Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 8 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Orofaciodigital syndrome type 8 Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Orofaciodigital syndrome type 8 Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fronto-frontal dysostosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Spinocerebellar ataxia type 34 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lateral accessory root canals Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of radius Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hologastroschisis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of aortic arch AND/OR descending aorta Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital iodine deficiency syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of ventricles and ventricular septum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect - ventricular component under inferior bridging leaflet Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multiple benign annular creases of extremities Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Absent thumb with short stature and immunodeficiency syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of pericardium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

Start Previous Page 25 of 138 Next End

Reference Sets

Body structure foundation reference set

Back to Start