58833000: Pseudohypoparathyroidism type I A (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\...
• \Obesity due to genetic disease.\Childhood obesity due to genetic disease.\Childhood onset obesity associated with a genetic syndrome.\Pseudohypoparathyroidism type I A
• \Body mass index at or above 95th percentile as compared to children of the same age and sex\Childhood obesity due to genetic disease.\Childhood onset obesity associated with a genetic syndrome.\Pseudohypoparathyroidism type I A
• \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 (disorder)\Hereditary disorder of musculoskeletal system\Pseudohypoparathyroidism type I A
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Pseudohypoparathyroidism type I A
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
• \Disease\Genetic disease\Obesity due to genetic disease.\Childhood obesity due to genetic disease.\Childhood onset obesity associated with a genetic 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 (disorder)\Pseudohypoparathyroidism type I A
• \Disease\Obesity (disorder)\Obesity due to genetic disease.\Childhood obesity due to genetic disease.\Childhood onset obesity associated with a genetic syndrome.\Pseudohypoparathyroidism type I A
• \Disease\Obesity (disorder)\Body mass index at or above 95th percentile as compared to children of the same age and sex\Childhood obesity due to genetic disease.\Childhood onset obesity associated with a genetic syndrome.\Pseudohypoparathyroidism type I A
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
• \Disease\Fetal and/or neonatal disorder\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 (disorder)\Hereditary disorder of musculoskeletal system\Pseudohypoparathyroidism type I A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Pseudohypoparathyroidism type I A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Acromesomelic dysplasia syndrome\Pseudohypoparathyroidism type I A
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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 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\Congenital skeletal dysplasia (disorder)\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:

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
913551000172115	AHA associée à PHP IA	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
977971000172116	pseudohypoparathyroïdie type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394471001000112	Pseudohypoparathyreoidismus Typ 1A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start