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42021008: Familial arginine vasopressin-related polyuria (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
70138014 Familial diabetes insipidus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5287679014 Familial vasopressin-related polyuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5287680012 Familial arginine vasopressin-related polyuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289632017 Familial arginine vasopressin-related polyuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289643013 Familial AVP (arginine vasopressin)-related polyuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4527061000241118 diabète insipide familial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial vasopressin-related polyuria Is a diabète insipide false Inferred relationship Some
Familial vasopressin-related polyuria Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Familial vasopressin-related polyuria Finding site Neurohypophysis structure false Inferred relationship Some 1
Familial vasopressin-related polyuria Interprets Nutritional deficiency (finding) false Inferred relationship Some
Familial vasopressin-related polyuria Is a Familial disease true Inferred relationship Some
Familial vasopressin-related polyuria Is a Arginine vasopressin-related polyuria (disorder) true Inferred relationship Some
Familial vasopressin-related polyuria Interprets Urine output observable true Inferred relationship Some 1
Familial vasopressin-related polyuria Has interpretation Increased true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial vasopressin deficiency Is a True Familial vasopressin-related polyuria Inferred relationship Some
diabète insipide néphrogénique héréditaire Is a False Familial vasopressin-related polyuria Inferred relationship Some
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal alpha-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. Is a False Familial vasopressin-related polyuria Inferred relationship Some

This concept is not in any reference sets

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