402599005: Acanthosis nigricans (disorder)

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

\Functional finding\Abnormal keratinization\Disorder of keratinisation\Acanthosis nigricans (disorder)

\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Acanthosis nigricans (disorder)

\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans (disorder)

Status: current, Not 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

1770523017 Acanthosis nigricans (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1781716017 Acanthosis nigricans en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

921691000195111 acantosi nigricans it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

148861000172115 Acanthosis nigricans fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

475801000274116 Acanthosis nigricans de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acanthosis nigricans (disorder)	Is a	Disorder of keratinisation	true	Inferred relationship	Some
Acanthosis nigricans (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Acanthosis nigricans (disorder)	Finding site	Skin structure	false	Inferred relationship	Some
Acanthosis nigricans (disorder)	Finding site	Structure of integumentary system (body structure)	true	Inferred relationship	Some	2
Acanthosis nigricans (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Acanthosis nigricans (disorder)	Interprets	Keratinization	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acanthosis nigricans of oral mucous membranes (disorder)	Is a	True	Acanthosis nigricans (disorder)	Inferred relationship	Some
Acanthosis nigricans absent (situation)	Associated finding	True	Acanthosis nigricans (disorder)	Inferred relationship	Some	1
Severe achondrolasia with developmental delay and acanthosis nigricans	Is a	False	Acanthosis nigricans (disorder)	Inferred relationship	Some
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Is a	True	Acanthosis nigricans (disorder)	Inferred relationship	Some
This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.	Is a	True	Acanthosis nigricans (disorder)	Inferred relationship	Some
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	Is a	True	Acanthosis nigricans (disorder)	Inferred relationship	Some
Acquired acanthosis nigricans	Is a	True	Acanthosis nigricans (disorder)	Inferred relationship	Some
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	Is a	True	Acanthosis nigricans (disorder)	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	True	Acanthosis nigricans (disorder)	Inferred relationship	Some
Malignant acanthosis nigricans	Is a	True	Acanthosis nigricans (disorder)	Inferred relationship	Some

Reference Sets