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1296910008: X-linked hereditary arginine vasopressin resistance (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
5287782012 X-linked hereditary vasopressin resistance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5287783019 X-linked hereditary arginine vasopressin resistance (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289669019 X-linked hereditary arginine vasopressin resistance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5289670018 X-linked hereditary AVP-R (arginine vasopressin resistance) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked hereditary vasopressin resistance Is a X-linked hereditary disease true Inferred relationship Some
X-linked hereditary vasopressin resistance Is a Hereditary vasopressin resistance true Inferred relationship Some
X-linked hereditary vasopressin resistance Finding site Urinary tract includes entire kidney and the urinary tract proper which relate to the ureter, bladder and urethra. true Inferred relationship Some 2
X-linked hereditary vasopressin resistance Interprets Urine output observable true Inferred relationship Some 1
X-linked hereditary vasopressin resistance Has interpretation Increased true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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 X-linked hereditary vasopressin resistance Inferred relationship Some

Reference Sets

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