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1296911007: Hereditary 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
5287792016 Hereditary arginine vasopressin-related polyuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5287793014 Hereditary arginine vasopressin-related polyuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289639014 Hereditary vasopressin-related polyuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289646017 Hereditary AVP (arginine vasopressin)-related polyuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary arginine vasopressin-related polyuria (disorder) Is a Arginine vasopressin-related polyuria (disorder) true Inferred relationship Some
Hereditary arginine vasopressin-related polyuria (disorder) Is a Hereditary disease true Inferred relationship Some
Hereditary arginine vasopressin-related polyuria (disorder) Interprets Urine output observable true Inferred relationship Some 1
Hereditary arginine vasopressin-related polyuria (disorder) Has interpretation Increased true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary vasopressin resistance Is a True Hereditary arginine vasopressin-related polyuria (disorder) Inferred relationship Some
Autosomal dominant hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary arginine vasopressin-related polyuria (disorder) Inferred relationship Some
Autosomal recessive hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary arginine vasopressin-related polyuria (disorder) 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 True Hereditary arginine vasopressin-related polyuria (disorder) Inferred relationship Some

This concept is not in any reference sets

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