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56090007: Pseudohypoparathyroidism type I B (disorder)

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

\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type I B

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

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type I B

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

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

93283014 Pseudohypoparathyroidism type I B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

794563010 Pseudohypoparathyroidism type I B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3786608016 A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3786609012 A type of pseudohypoparathyroidism with characteristics of localised resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

845941000052119 pseudohypoparatyreoidism, typ 1 B sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudohypoparathyroidism type I B	Is a	Pseudohypoparathyroidism type I A	false	Inferred relationship	Some
Pseudohypoparathyroidism type I B	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Pseudohypoparathyroidism type I B	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type I B	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Finding site	Bone structure	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Occurrence	Congenital	false	Inferred relationship	Some
Pseudohypoparathyroidism type I B	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Finding site	Bone structure	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Occurrence	Congenital	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type I B	Finding site	Bone structure	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type I B	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type I B	Occurrence	Congenital	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Is a	Pseudohypoparathyroidism	true	Inferred relationship	Some
Pseudohypoparathyroidism type I B	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Has interpretation	Decreased	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Finding site	Parathyroid structure	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
93283014	Pseudohypoparathyroidism type I B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
794563010	Pseudohypoparathyroidism type I B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3786608016	A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3786609012	A type of pseudohypoparathyroidism with characteristics of localised resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
845941000052119	pseudohypoparatyreoidism, typ 1 B	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)