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724176001: Lipodystrophy due to peptidic growth factors deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3431530019 Lipodystrophy due to peptidic growth factors deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431531015 Lipodystrophy due to peptidic growth factors deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431532010 Combined insulin, insulin-like growth factor 1 and epidermal growth factor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431533017 Hoepffner Dreyer Reimers syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431534011 Werner-like syndrome due to combined growth factor deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403265010 A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403266011 A rare genetic lipodystrophy characterised by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431530019 Lipodystrophy due to peptidic growth factors deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431531015 Lipodystrophy due to peptidic growth factors deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431532010 Combined insulin, insulin-like growth factor 1 and epidermal growth factor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431533017 Hoepffner Dreyer Reimers syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431534011 Werner-like syndrome due to combined growth factor deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431535012 Syndrome that has characteristics of loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). The syndrome has been described in only one family with three affected siblings. Other clinical signs are joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, and micrognathia. One sibling also showed insulin-resistant diabetes mellitus. The syndrome is due to a combined decreased action of insulin, insulin-like growth factor I (IGF-1) and epidermal growth factor (EGF). The disease shows common clinical characteristics with Werner syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403265010 A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403266011 A rare genetic lipodystrophy characterised by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3412291001000114 Lipodystrophie durch peptidischen Wachstumsfaktormangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933771000172112 lipodystrophie par déficit en facteurs de croissance peptidiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
935881000172116 déficit combiné en insuline, facteur de croissance IGF1, facteur de croissance épidermique EGF fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933771000172112 lipodystrophie par déficit en facteurs de croissance peptidiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
935881000172116 déficit combiné en insuline, facteur de croissance IGF1, facteur de croissance épidermique EGF fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412291001000114 Lipodystrophie durch peptidischen Wachstumsfaktormangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lipodystrophy due to peptidic growth factors deficiency (disorder) Is a Lipodystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Lipodystrophy due to peptidic growth factors deficiency (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lipodystrophy due to peptidic growth factors deficiency (disorder) Finding site Subcutaneous fatty tissue true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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