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51398009: Hamartoma (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
85611013 Hamartoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
789292013 Hamartoma (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

31 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hamartoma Is a Maturation defect false Inferred relationship Some
Hamartoma Is a Focal enlargement false Inferred relationship Some
Hamartoma Is a Neoplasm and/or hamartoma (morphologic abnormality) true Inferred relationship Some
Hamartoma Is a anomalie du développement false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cystic hamartoma of lung and kidney Associated morphology False Hamartoma Inferred relationship Some 2
Cystic hamartoma of lung and kidney Associated morphology False Hamartoma Inferred relationship Some 3
Myoid hamartoma (morphologic abnormality) Is a True Hamartoma Inferred relationship Some
syndrome de Moynahan Associated morphology False Hamartoma Inferred relationship Some 4
A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease. Associated morphology True Hamartoma Inferred relationship Some 1
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Associated morphology True Hamartoma Inferred relationship Some 3
Hamartoma of small intestine (disorder) Associated morphology True Hamartoma Inferred relationship Some 1
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Associated morphology True Hamartoma Inferred relationship Some 2
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Associated morphology False Hamartoma Inferred relationship Some 3
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 False Hamartoma Inferred relationship Some
Bannayan syndrome Associated morphology True Hamartoma 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 Hamartoma Inferred relationship Some 1
Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. Associated morphology True Hamartoma Inferred relationship Some 1
Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. Associated morphology True Hamartoma Inferred relationship Some 1
Melanocytic nevus - category Is a False Hamartoma Inferred relationship Some
Lentigo (morphologic abnormality) Is a True Hamartoma Inferred relationship Some
Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. Associated morphology True Hamartoma Inferred relationship Some 1
Sturge-Weber syndrome Associated morphology False Hamartoma Inferred relationship Some 2
Enostosis Is a True Hamartoma Inferred relationship Some
Congenital rhabdomyomatous mesenchymal hamartoma Associated morphology False Hamartoma Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. Associated morphology True Hamartoma Inferred relationship Some 3
Pulmonary tuberous sclerosis (disorder) Associated morphology True Hamartoma Inferred relationship Some 4
Hairy malformation of palms and soles Associated morphology True Hamartoma Inferred relationship Some 2
Ash leaf spot, tuberous sclerosis (disorder) Associated morphology False Hamartoma Inferred relationship Some 3
Naevus comedonicus Associated morphology True Hamartoma Inferred relationship Some 1
Lhermitte-Duclos disease Associated morphology True Hamartoma Inferred relationship Some 1
Tuberous sclerosis syndrome Associated morphology False Hamartoma Inferred relationship Some 3
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Associated morphology False Hamartoma Inferred relationship Some 4
Lipomatous hamartoma Is a True Hamartoma Inferred relationship Some
Pulmonary hamartoma Is a True Hamartoma Inferred relationship Some
Fibrous skin tumor of tuberous sclerosis Associated morphology True Hamartoma Inferred relationship Some 2
Congenital hamartoma of bilateral irises (disorder) Associated morphology True Hamartoma Inferred relationship Some 1
Congenital hamartoma of bilateral irises (disorder) Associated morphology True Hamartoma Inferred relationship Some 2
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Associated morphology True Hamartoma Inferred relationship Some 3
Port-wine stain in proteus syndrome (disorder) Associated morphology True Hamartoma Inferred relationship Some 2
Linear basal cell nevus is a rare hair follicle hamartoma that shows overlapping pathological features of basal cell carcinoma. Clinically it presents with a linear collection of macules and papules histologically similar to basal cell carcinoma but with benign progression. Associated morphology True Hamartoma Inferred relationship Some 1
Hamartoma of duodenal gland Associated morphology True Hamartoma Inferred relationship Some 1
Cystic hamartoma (morphologic abnormality) Is a True Hamartoma Inferred relationship Some
A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision. Associated morphology True Hamartoma Inferred relationship Some 1
Congenital hamartoma of iris of left eye (disorder) Associated morphology True Hamartoma Inferred relationship Some 1
Congenital hamartoma of iris of right eye (disorder) Associated morphology True Hamartoma Inferred relationship Some 1
Congenital hamartoma of iris (disorder) Associated morphology True Hamartoma Inferred relationship Some 1
Dermal melanocytic hamartoma (disorder) Associated morphology True Hamartoma Inferred relationship Some 2

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