Update Metabolic Underlying Medical Condition Reference Set

Description

Add these concepts to Metabolic Underlying Medical Condition Refset

SNOMED ID

SNOMED FSN

363732003

Addison's disease (disorder)

386584007

Adrenal cortical hypofunction (disorder)

237751000

Congenital adrenal hyperplasia (disorder)

237735008

Adrenal Cushing's syndrome (disorder)

46635009

Diabetes mellitus type 1 (disorder)

44054006

Diabetes mellitus type 2 (disorder)

111578003

Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder)

66937008

Glycogen storage disease, type III (disorder)

419097006

Danon disease (disorder)

124437004

Deficiency of glucose-6-phosphatase (disorder)

61598006

Glycogenosis with glucoaminophosphaturia (disorder)

7265005

Glycogen storage disease, type I (disorder)

274864009

Glycogen storage disease, type II (disorder)

11179002

Glycogen storage disease, type IV (disorder)

235908005

Glycogen storage disease type IX (disorder)

55912009

Glycogen storage disease, type V (disorder)

29291001

Glycogen storage disease, type VI (disorder)

89597008

Glycogen storage disease, type VII (disorder)

41527003

Glycogen storage disease type VIII (disorder)

37666005

Glycogen storage disease type X (disorder)

717821004

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)

124335006

Deficiency of phosphoglycerate kinase (disorder)

124675005

Deficiency of phosphoglycerate mutase (disorder)

124329006

Deficiency of phosphorylase kinase (disorder)

74728003

Hypopituitarism (disorder)

267454002

Acatalasemia (disorder)

238069004

Acyl-coenzyme A oxidase deficiency (disorder)

65520001

Primary hyperoxaluria, type I (disorder)

190680002

Disorders of amino acid transport and metabolism (disorder)

54954004

Aspartylglucosaminuria (disorder)

16652001

Fabry's disease (disorder)

79935000

Farber's lipogranulomatosis (disorder)

717276003

Folinic acid responsive seizure syndrome (disorder)

28183005

Fructose-biphosphatase deficiency (disorder)

124302001

Deficiency of galactokinase (disorder)

35691006

Combined deficiency of sialidase AND beta galactosidase (disorder)

190745006

Galactosemia (disorder)

190794006

Glucosylceramide beta-glucosidase deficiency (disorder)

238025006

GM1 gangliosidosis (disorder)

111385000

Tay-Sachs disease (disorder)

18756002

Juvenile GM1 gangliosidosis (disorder)

20052008

Fructose-1,6-bisphosphate aldolase B deficiency (disorder)

26745009

Mucopolysaccharidosis type I-H/S (disorder)

238062008

Infantile Refsum's disease (disorder)

192782005

Galactosylceramide beta-galactosidase deficiency (disorder)

237964009

Glycogen synthase deficiency (disorder)

65524005

Mannosidosis (disorder)

27718001

Maple syrup urine disease (disorder)

69463008

Maroteaux-Lamy syndrome (disorder)

396338004

Metachromatic leucodystrophy (disorder)

45744005

Disorder of mineral metabolism (disorder)

38795005

Sialidosis (disorder)

70199000

I-cell disease (disorder)

725296006

Mucolipidosis type IV (disorder)

75610003

Mucopolysaccharidosis type I (disorder)

70737009

Mucopolysaccharidosis type II (disorder)

43916004

Mucopolysaccharidosis type VII (disorder)

238061001

Neonatal adrenoleucodystrophy (disorder)

58459009

Sphingomyelin/cholesterol lipidosis (disorder)

238059005

Disorder of peroxisomal function (disorder)

7573000

Classical phenylketonuria (disorder)

5335002

Phosphoenolpyruvate carboxykinase deficiency (disorder)

387817006

Deficiency of phosphorylase b kinase (disorder)

65764006

Pseudo-Hurler polydystrophy (disorder)

238006008

Disorder of purine and pyrimidine metabolism (disorder)

46683007

Pyruvate dehydrogenase complex deficiency (disorder)

25362006

Phytanic acid storage disease (disorder)

23849003

Sandhoff disease (disorder)

88393000

Sanfilippo syndrome (disorder)

73123008

Mucopolysaccharidosis type I-S (disorder)

367368009

Sulfite oxidase deficiency (disorder)

8849004

Uridine diphosphate glucose-4-epimerase deficiency (disorder)

65389002

Adrenoleukodystrophy (disorder)

88469006

Zellweger syndrome (disorder)

66999008

Hyperparathyroidism (disorder)

36976004

Hypoparathyroidism (disorder)

353295004

Graves' disease (disorder)

21983002

Hashimoto thyroiditis (disorder)

34486009

Hyperthyroidism (disorder)

40930008

Hypothyroidism (disorder)

Activity

Show:
Susan Matney
July 22, 2020, 4:28 PM

Passed QA

Assignee

Susan Castillo

Reporter

Susan Castillo

Labels

None

Concept ID

None

Concept Name

None

Release Version History

None

Priority

Major
Configure