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1197746001: AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder)


Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4697877010 AKT serine/threonine kinase 2-related familial partial lipodystrophy en Synonym Active Case sensitive SNOMED CT core
4697878017 AKT2-related familial partial lipodystrophy en Synonym Active Case sensitive SNOMED CT core
4697879013 AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder) en Fully specified name Active Case sensitive SNOMED CT core
4697880011 A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinaemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. en Definition Active Case sensitive SNOMED CT core
4697881010 A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
AKT2-related familial partial lipodystrophy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a Inherited disorder of connective tissue true Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a Hereditary disorder of the integument true Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a Familial partial lipodystrophy true Inferred relationship Some
AKT2-related familial partial lipodystrophy Finding site Trunk structure true Inferred relationship Some 2
AKT2-related familial partial lipodystrophy Finding site Limb structure true Inferred relationship Some 3
AKT2-related familial partial lipodystrophy Finding site Subcutaneous fatty tissue true Inferred relationship Some 1
AKT2-related familial partial lipodystrophy Associated morphology Dystrophy true Inferred relationship Some 1
AKT2-related familial partial lipodystrophy Is a Hereditary disorder of endocrine system true Inferred relationship Some
AKT2-related familial partial lipodystrophy Finding site Structure of endocrine system true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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