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1197745002: Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4697870012 Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697871011 FPLD3 - familial partial lipodystrophy type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697872016 PPARG-related familial partial lipodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697873014 Familial partial lipodystrophy type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697874015 Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399778019 A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399779010 A rare familial partial lipodystrophy characterised by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697870012 Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697871011 FPLD3 - familial partial lipodystrophy type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697872016 PPARG-related familial partial lipodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697873014 Familial partial lipodystrophy type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697874015 Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4697875019 A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidaemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4697876018 A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399778019 A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399779010 A rare familial partial lipodystrophy characterised by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3383421001000112 Lipodystrophie, familiäre partielle, durch PPARG-Genmutation de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383421001000112 Lipodystrophie, familiäre partielle, durch PPARG-Genmutation 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
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a Familial partial lipodystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Finding site Trunk structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Finding site Subcutaneous fatty tissue true Inferred relationship Existential restriction modifier (core metadata concept) 1
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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