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400083002: Congenital hamartoma of skin (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1768003013 Congenital hamartoma of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1779349016 Congenital hamartoma of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5258141000241117 harmatome congénital de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

21 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hamartoma of skin (disorder) Is a Congenital anomaly of integument false Inferred relationship Some
Congenital hamartoma of skin (disorder) Is a Hamartoma of skin (disorder) true Inferred relationship Some
Congenital hamartoma of skin (disorder) Is a Congenital hamartoma (disorder) true Inferred relationship Some
Congenital hamartoma of skin (disorder) Finding site Skin structure false Inferred relationship Some 1
Congenital hamartoma of skin (disorder) Occurrence Congenital false Inferred relationship Some
Congenital hamartoma of skin (disorder) Associated morphology Hamartoma false Inferred relationship Some 1
Congenital hamartoma of skin (disorder) Associated morphology Hamartoma true Inferred relationship Some 1
Congenital hamartoma of skin (disorder) Finding site Skin structure true Inferred relationship Some 1
Congenital hamartoma of skin (disorder) Is a Congenital anomaly of skin false Inferred relationship Some
Congenital hamartoma of skin (disorder) Occurrence Congenital false Inferred relationship Some 2
Congenital hamartoma of skin (disorder) Associated morphology Hamartoma false Inferred relationship Some 2
Congenital hamartoma of skin (disorder) Finding site Skin structure false Inferred relationship Some 2
Congenital hamartoma of skin (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital hamartoma of skin (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Congenital hamartoma of skin (disorder) Is a Fetal and/or neonatal disorder of integument true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital absence of skin on scalp with epidermal naevi Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
Shagreen patch Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
Congenital pigmented melanocytic nevus of skin (disorder) Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
Congenital erector pili hamartoma Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
Malignant melanoma arising in congenital nevus Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
Congenital melanocytic nevus of face Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
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. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
Congenital melanocytic naevus of trunk Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
Hypotrichosis with keratosis pilaris and lentiginosis Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
Peutz-Jeghers syndrome Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
Centrofacial lentiginosis syndrome Is a True Congenital hamartoma of skin (disorder) 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. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
A rare skin disorder characterized by the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
Hair follicle naevus Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
Naevus comedonicus Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
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. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
Nevus spilus (disorder) Is a False Congenital hamartoma of skin (disorder) Inferred relationship Some
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some
Dermal melanocytic hamartoma (disorder) Is a True Congenital hamartoma of skin (disorder) Inferred relationship Some

This concept is not in any reference sets

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