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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3313312011 Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Finding site Structure of integumentary system true Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Structure of endocrine system true Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Insulin receptor defect true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a Acanthosis nigricans true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Structure of integumentary system false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Structure of endocrine system false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Has definitional manifestation Abnormal keratinisation false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Occurrence Congenital false Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Occurrence Congenital false Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Structure of endocrine system false Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Finding site Structure of integumentary system false Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Has interpretation Abnormal true Inferred relationship Some 3
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Interprets Keratinisation true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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