42183005: pseudohypoparathyreoïdie type II (aandoening)

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

\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type II

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type II

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type II

\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type II
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type II
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypocalcemia\Pseudohypoparathyroidism\Pseudohypoparathyroidism type II

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

70396015 Pseudohypoparathyroidism type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

779054013 Pseudohypoparathyroidism type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3786606017 Pseudohypoparathyroidism type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6841221000146118 PTH-resistentie type II nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7148901000146117 pseudohypoparathyreoïdie type II nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7148911000146115 pseudohypoparathyreoïdie type II (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7148921000146113 pseudohypoparathyroïdie type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7148951000146116 syndroom van Albright type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3786605018 A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3786607014 A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesized that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudohypoparathyroidism type II	Is a	Pseudohypoparathyroidism type I A	false	Inferred relationship	Some
Pseudohypoparathyroidism type II	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Occurrence	Congenital	false	Inferred relationship	Some
Pseudohypoparathyroidism type II	Finding site	Bone structure	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Pseudohypoparathyroidism type II	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type II	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Finding site	Bone structure	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Occurrence	Congenital	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type II	Finding site	Bone structure	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type II	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type II	Occurrence	Congenital	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Has interpretation	Decreased	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Finding site	Parathyroid structure	true	Inferred relationship	Some	2
Pseudohypoparathyroidism type II	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Is a	Pseudohypoparathyroidism	true	Inferred relationship	Some

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
70396015	Pseudohypoparathyroidism type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
779054013	Pseudohypoparathyroidism type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3786606017	Pseudohypoparathyroidism type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6841221000146118	PTH-resistentie type II	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7148901000146117	pseudohypoparathyreoïdie type II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7148911000146115	pseudohypoparathyreoïdie type II (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7148921000146113	pseudohypoparathyroïdie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7148951000146116	syndroom van Albright type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3786605018	A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3786607014	A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesized that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core