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

1351962002: Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5418534013 Epidermal growth factor-related primary hypomagnesaemia with intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5418535014 Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5418536010 EGF-related primary hypomagnesaemia with intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5418537018 Epidermal growth factor-related primary hypomagnesemia with intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5418538011 EGF-related primary hypomagnesemia with intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5418539015 A rare disorder of magnesium transport characterised by hypomagnesaemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcaemia and obesity are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5418540018 A rare disorder of magnesium transport characterized by hypomagnesemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcemia and obesity are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5418534013 Epidermal growth factor-related primary hypomagnesaemia with intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5418535014 Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5418536010 EGF-related primary hypomagnesaemia with intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5418537018 Epidermal growth factor-related primary hypomagnesemia with intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5418538011 EGF-related primary hypomagnesemia with intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5418539015 A rare disorder of magnesium transport characterised by hypomagnesaemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcaemia and obesity are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5418540018 A rare disorder of magnesium transport characterized by hypomagnesemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcemia and obesity are absent. 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
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a Metabolic renal disease true Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a Primary hypomagnesemia true Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a Renal tubular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Finding site Renal tubule structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 2
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Has interpretation Impaired (qualifier value) 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)

Back to Start