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716200002: Arginine vasopressin resistance, intracranial calcification, short stature, facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305068016 Nephrogenic diabetes insipidus and intracranial calcification syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305069012 Schofer Beetz Bohl syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309978010 Arginine vasopressin resistance, intracranial calcification, short stature, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309979019 Arginine vasopressin resistance, intracranial calcification, short stature, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401267010 A rare, genetic, renal tubular disease characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401268017 A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990. 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
Schofer Beetz Bohl syndrome Is a Arginine vasopressin resistance (disorder) true Inferred relationship Some
Schofer Beetz Bohl syndrome Is a Extraskeletal calcification false Inferred relationship Some
Schofer Beetz Bohl syndrome Is a Lesion of brain true Inferred relationship Some
Schofer Beetz Bohl syndrome Finding site Neurohypophysis structure false Inferred relationship Some 2
Schofer Beetz Bohl syndrome Finding site Renal tubule structure (body structure) false Inferred relationship Some 1
Schofer Beetz Bohl syndrome Associated morphology Pathologic calcification true Inferred relationship Some 3
Schofer Beetz Bohl syndrome Finding site Brain structure true Inferred relationship Some 3
Schofer Beetz Bohl syndrome Is a Degenerative disease of the central nervous system false Inferred relationship Some
Schofer Beetz Bohl syndrome Is a Calcinosis true Inferred relationship Some
Schofer Beetz Bohl syndrome Is a Degenerative brain disorder true Inferred relationship Some
Schofer Beetz Bohl syndrome Interprets Urine output observable true Inferred relationship Some 1
Schofer Beetz Bohl syndrome Has interpretation Increased true Inferred relationship Some 1
Schofer Beetz Bohl syndrome Finding site Urinary system structure (body structure) true Inferred relationship Some 2
Schofer Beetz Bohl syndrome Is a Genetic disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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