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771445001: hypercalcémie infantile autosomique récessive (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706227018 Autosomal recessive infantile hypercalcemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706228011 Autosomal recessive infantile hypercalcaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706229015 Familial infantile hypercalcaemia with suppressed intact parathyroid hormone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706230013 Autosomal recessive infantile hypercalcemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706231012 Familial infantile hypercalcemia with suppressed intact parathyroid hormone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
770721000241117 hypercalcémie infantile autosomique récessive (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
928061000172112 hypercalcémie infantile familiale avec diminution de PTHi fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
933291000172118 hypercalcémie infantile autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3706232017 A rare genetic phospho-calcic metabolism disorder characterised by early-onset hypercalcaemia, hypophosphataemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706233010 A rare genetic phospho-calcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria. 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
Autosomal recessive infantile hypercalcemia (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive infantile hypercalcemia (disorder) est un(e) (attribut) Infantile hypercalcemia true Inferred relationship Some
Autosomal recessive infantile hypercalcemia (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 1
Autosomal recessive infantile hypercalcemia (disorder) interprète (attribut) Serum calcium measurement true Inferred relationship Some 1
Autosomal recessive infantile hypercalcemia (disorder) survenue (attribut) Infancy (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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