771445001: Autosomal recessive infantile hypercalcemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of blood substance level\Blood substance level above reference range\Serum calcium level above reference range\Hypercalcemia\Infantile hypercalcemia\Autosomal recessive infantile hypercalcemia (disorder)

\Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum calcium level above reference range\Hypercalcemia\Infantile hypercalcemia\Autosomal recessive infantile hypercalcemia (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive infantile hypercalcemia (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypercalcemia\Infantile hypercalcemia\Autosomal recessive infantile hypercalcemia (disorder)

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

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

928061000172112 hypercalcémie infantile familiale avec diminution de PTHi fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

933291000172118 hypercalcémie infantile autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

915271000172111 autosomaal recessieve infantiele hypercalciëmie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

966581000172119 familiale infantiele hypercalciëmie met onderdrukt intact parathyreoïdhormoon nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive infantile hypercalcemia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive infantile hypercalcemia (disorder)	Is a	Infantile hypercalcemia	true	Inferred relationship	Some
Autosomal recessive infantile hypercalcemia (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	1
Autosomal recessive infantile hypercalcemia (disorder)	Interprets	Serum calcium measurement	true	Inferred relationship	Some	1
Autosomal recessive infantile hypercalcemia (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
928061000172112	hypercalcémie infantile familiale avec diminution de PTHi	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
933291000172118	hypercalcémie infantile autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
915271000172111	autosomaal recessieve infantiele hypercalciëmie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
966581000172119	familiale infantiele hypercalciëmie met onderdrukt intact parathyreoïdhormoon	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)