FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1279884000: Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5234336010 Limb girdle muscular dystrophy type R24 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234337018 Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234338011 POMGNT2-related limb girdle muscular dystrophy R24 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234339015 POMGNT2-related muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234340018 Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400730012 A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400731011 A rare autosomal recessive limb-girdle muscular dystrophy characterised by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234336010 Limb girdle muscular dystrophy type R24 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234337018 Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234338011 POMGNT2-related limb girdle muscular dystrophy R24 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234339015 POMGNT2-related muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234340018 Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5234341019 A rare autosomal recessive limb girdle muscular dystrophy with characteristics of infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400730012 A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400731011 A rare autosomal recessive limb-girdle muscular dystrophy characterised by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase. 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
POMGNT2-related limb girdle muscular dystrophy R24 Is a Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
POMGNT2-related limb girdle muscular dystrophy R24 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
POMGNT2-related limb girdle muscular dystrophy R24 Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
POMGNT2-related limb girdle muscular dystrophy R24 Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
POMGNT2-related limb girdle muscular dystrophy R24 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

GB English

US English

Back to Start