36976004: Hypoparathyroidism (disorder)

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
Hypoparathyroidism	Is a	Disorder of parathyroid gland (disorder)	true	Inferred relationship	Some
Hypoparathyroidism	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
Hypoparathyroidism	Finding site	Parathyroid structure	true	Inferred relationship	Some	2
Hypoparathyroidism	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Hypoparathyroidism	Has definitional manifestation	Decreased hormone secretion	false	Inferred relationship	Some
Hypoparathyroidism	Has interpretation	Decreased	true	Inferred relationship	Some	1
Hypoparathyroidism	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Hypoparathyroidism	Is a	Decreased hormone secretion	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Post-surgical hypoparathyroidism	Is a	False	Hypoparathyroidism	Inferred relationship	Some
Idiopathic hypoparathyroidism	Is a	True	Hypoparathyroidism	Inferred relationship	Some
X-linked hypoparathyroidism (disorder)	Is a	True	Hypoparathyroidism	Inferred relationship	Some
autosomal dominant hypoparatyroidisme	Is a	False	Hypoparathyroidism	Inferred relationship	Some
A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive.	Is a	False	Hypoparathyroidism	Inferred relationship	Some
Transient hypoparathyroidism	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Postablative hypoparathyroidism (disorder)	Is a	False	Hypoparathyroidism	Inferred relationship	Some
Parathyroid hypocalcemic tetany	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Neonatal hypoparathyroidism	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Autoimmune hypoparathyroidism	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Isolated late onset hypoparathyroidism	Is a	True	Hypoparathyroidism	Inferred relationship	Some
idiopatisk parathyroidisme	Is a	False	Hypoparathyroidism	Inferred relationship	Some
Hypoparathyroidism NOS	Is a	False	Hypoparathyroidism	Inferred relationship	Some
[X]Other hypoparathyroidism	Is a	False	Hypoparathyroidism	Inferred relationship	Some
Cataract in hypoparathyroidism	Associated with	True	Hypoparathyroidism	Inferred relationship	Some	1
Hypoparathyroidism due to impaired PTH secretion	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Is a	False	Hypoparathyroidism	Inferred relationship	Some
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder)	Is a	False	Hypoparathyroidism	Inferred relationship	Some
Hypoparathyroidism due to hemochromatosis (disorder)	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Secondary hypoparathyroidism (disorder)	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Hypoparathyroidism due to granulomatous disease (disorder)	Is a	True	Hypoparathyroidism	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993.	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Hypoparathyroidism following procedure (disorder)	Is a	True	Hypoparathyroidism	Inferred relationship	Some
A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).	Is a	True	Hypoparathyroidism	Inferred relationship	Some
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.	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Hypoparathyroidism due to Wilson disease	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.	Is a	True	Hypoparathyroidism	Inferred relationship	Some
Chorea due to hypoparathyroidism (disorder)	Due to	True	Hypoparathyroidism	Inferred relationship	Some	2

Reference Sets

US English

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Id	Description	Lang	Type	Status	Case?	Module
61678012	Hypoparathyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
61680018	Deficiency of parathyroid hormone	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
61681019	Deficiency of parathyrin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
768789012	Hypoparathyroidism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5245688017	Deficiency of PTH (parathyroid hormone)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3516651000005111	hypoparatyroidisme	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)