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367601000119103: Hereditary amyloidosis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3482130011 Hereditary amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482131010 Hereditary amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482130011 Hereditary amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482131010 Hereditary amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
951831000172119 amylose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
976291000172110 amyloïdose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
951831000172119 amylose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
976291000172110 amyloïdose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

30 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary amyloidosis (disorder) Associated morphology Amyloid deposition true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary amyloidosis (disorder) Is a Amyloidosis true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary amyloidosis (disorder) Is a Hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial Mediterranean fever Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary oculoleptomeningeal amyloid angiopathy (disorder) Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid polyneuropathy with cutaneous amyloidosis (disorder) Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lattice corneal dystrophy Type II Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant beta2-microglobulinic amyloidosis Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebral hemorrhage with amyloidosis (disorder) Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial dementia British type (disorder) Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
AGel amyloidosis Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
ADan amyloidosis Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Meretoja Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Heredofamilial systemic amyloidosis affecting skin (disorder) Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid polyneuropathy (disorder) Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gelatinous droplike corneal dystrophy Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cystatin C amyloid angiopathy Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lattice corneal dystrophy Is a False Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Localized hereditary amyloidosis (disorder) Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cerebrovascular amyloidosis (disorder) Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Integral membrane protein 2B related amyloidosis (disorder) Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary ATTR amyloidosis Is a True Hereditary amyloidosis (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

GB English

US English

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