86042009: Congenital melanosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of pigmentation (disorder)\Melanosis (disorder)\Congenital melanosis

\Disorder of foetus and/or newborn\Congenital disease\Congenital melanosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

142649017 Congenital melanosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

828223014 Congenital melanosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2011631000005119 kongenit melanose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital melanosis	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Congenital melanosis	Associated morphology	kongenit hyperpigmentering	false	Inferred relationship	Some	2
Congenital melanosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital melanosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital melanosis	Associated morphology	Melanosis	true	Inferred relationship	Some	1
Congenital melanosis	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital melanosis	Is a	Skin lesion (disorder)	false	Inferred relationship	Some
Congenital melanosis	Finding site	Skin structure	false	Inferred relationship	Some	4
Congenital melanosis	Finding site	Skin structure	false	Inferred relationship	Some	4
Congenital melanosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital melanosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital melanosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital melanosis	Is a	Melanosis (disorder)	true	Inferred relationship	Some
Congenital melanosis	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital melanosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital melanosis	Is a	Congenital disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital melanosis of sclera	Is a	True	Congenital melanosis	Inferred relationship	Some
Hypotrichosis with keratosis pilaris and lentiginosis (disorder)	Is a	False	Congenital melanosis	Inferred relationship	Some
Centrofacial lentiginosis syndrome (disorder)	Is a	True	Congenital melanosis	Inferred relationship	Some
Hereditary benign acanthosis nigricans with insulin resistance	Is a	True	Congenital melanosis	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	True	Congenital melanosis	Inferred relationship	Some
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	Is a	True	Congenital melanosis	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 melanosis	Inferred relationship	Some
Hereditary benign acanthosis nigricans	Is a	True	Congenital melanosis	Inferred relationship	Some
Acromelanosis	Is a	True	Congenital melanosis	Inferred relationship	Some
Neurokutan melanose-sekvens	Is a	False	Congenital melanosis	Inferred relationship	Some
Melanosis oculi (disorder)	Is a	True	Congenital melanosis	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 melanosis	Inferred relationship	Some
Nevus spilus (disorder)	Is a	False	Congenital melanosis	Inferred relationship	Some
Neurocutaneous melanosis	Is a	False	Congenital melanosis	Inferred relationship	Some
Dermal melanocytic hamartoma (disorder)	Is a	True	Congenital melanosis	Inferred relationship	Some

Reference Sets