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718715007: syndrome d'acanthosis nigricans-résistance à l'insuline-crampes-hypertrophie acrale (trouble)


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
752491000241110 syndrome d'acanthosis nigricans-résistance à l'insuline-crampes-hypertrophie acrale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
898541000172117 syndrome d'acanthosis nigricans-résistance à l'insuline-crampes-hypertrophie acrale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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) localisation d'une constatation (attribut) Structure of integumentary system (body structure) true Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) localisation d'une constatation (attribut) Structure of endocrine system (body structure) true Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) est un(e) (attribut) Insulin receptor defect true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) est un(e) (attribut) Acanthosis nigricans true Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) localisation d'une constatation (attribut) Structure of integumentary system (body structure) false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) localisation d'une constatation (attribut) Structure of endocrine system (body structure) false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) localisation d'une constatation (attribut) Structure of endocrine system (body structure) false Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) localisation d'une constatation (attribut) Structure of integumentary system (body structure) false Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 3
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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