58833000: Pseudohypoparathyroidism type I A (disorder)

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

\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudohypoparathyroidism type I A

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudohypoparathyroidism type I A

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudohypoparathyroidism type I A

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Pseudohypoparathyroidism type I A
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pseudohypoparathyroidism type I A
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Pseudohypoparathyroidism type I A
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pseudohypoparathyroidism type I A
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pseudohypoparathyroidism type I A
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pseudohypoparathyroidism type I A
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Pseudohypoparathyroidism type I A
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudohypoparathyroidism type I A
\Disease\Metabolic disease\Metabolic bone disease\Pseudohypoparathyroidism type I A
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism (disorder)\Disorder of calcium metabolism\Hypocalcemia\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudohypoparathyroidism type I A
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Disease\Developmental disorder\Developmental hereditary disorder\Pseudohypoparathyroidism type I A
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudohypoparathyroidism type I A	Is a	Acromesomelic dysplasia syndrome	true	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.	true	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	Pseudohypoparathyroidism and pseudopseudohypoparathyroidism	false	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Occurrence	Congenital	false	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Finding site	Bone structure	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Is a	Congenital anomaly of endocrine gland	false	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Is a	Metabolic bone disease	true	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Finding site	Bone structure	false	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Occurrence	Congenital	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Finding site	Bone structure	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Occurrence	Congenital	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type I A	Interprets	Hormone secretion	true	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Finding site	Parathyroid structure	true	Inferred relationship	Some	3
Pseudohypoparathyroidism type I A	Has interpretation	Decreased	true	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Occurrence	Congenital	true	Inferred relationship	Some	3
Pseudohypoparathyroidism type I A	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Is a	False	Pseudohypoparathyroidism type I A	Inferred relationship	Some
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).	Is a	False	Pseudohypoparathyroidism type I A	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
97765018	Pseudohypoparathyroidism type I A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
97766017	Albright hereditary osteodystrophy, classical type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498251019	AHO - Albright hereditary osteodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498252014	Albright hereditary osteodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498254010	Pseudohypoparathyroidism type Ia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
797609014	Pseudohypoparathyroidism type I A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3890739018	Pseudohypoparathyroidism type 1A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3516611000005110	pseudohypoparatyroidisme type A	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)