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718715007: Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313311016 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313312011 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313313018 This syndrome has characteristics of the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. At least five cases have been described in the literature so far. Enlargement of the kidneys was also reported in some cases. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Is a Insulin receptor defect true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Is a Acanthosis nigricans (disorder) true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Finding site Structure of integumentary system (body structure) false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Finding site Structure of endocrine system (body structure) false Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Finding site Structure of integumentary system (body structure) false Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 3
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Interprets Keratinization true Inferred relationship Some 3
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Finding site Structure of integumentary system (body structure) true Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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