717792007: pseudohypoparathyreoïdie type 1c (aandoening)

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

\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type 1C (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type 1C (disorder)

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type 1C (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pseudohypoparathyroidism type 1C (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Pseudohypoparathyroidism type 1C (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pseudohypoparathyroidism type 1C (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Pseudohypoparathyroidism type 1C (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type 1C (disorder)
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type 1C (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypocalcemia\Pseudohypoparathyroidism\Pseudohypoparathyroidism type 1C (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3310264019 Pseudohypoparathyroidism type 1C (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3310265018 Pseudohypoparathyroidism type 1C en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6068281000146116 pseudohypoparathyroïdie type 1c nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7091371000146115 pseudohypoparathyreoïdie type 1c nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7091381000146118 pseudohypoparathyreoïdie type 1c (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudohypoparathyroidism type 1C (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Pseudohypoparathyroidism type 1C (disorder)	Is a	Pseudohypoparathyroidism	true	Inferred relationship	Some
Pseudohypoparathyroidism type 1C (disorder)	Finding site	Parathyroid structure	true	Inferred relationship	Some	2
Pseudohypoparathyroidism type 1C (disorder)	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type 1C (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	1
Pseudohypoparathyroidism type 1C (disorder)	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Pseudohypoparathyroidism type 1C (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Pseudohypoparathyroidism type 1C (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets