1186807002: Hereditary growth hormone deficiency (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Hypopituitarism\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Hereditary growth hormone deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary growth hormone deficiency (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary growth hormone deficiency (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary growth hormone deficiency (disorder)	Is a	Growth hormone deficiency (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary growth hormone deficiency (disorder)	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Growth delay due to insulin-like growth factor type 1 deficiency (disorder)	Is a	True	Hereditary growth hormone deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.	Is a	True	Hereditary growth hormone deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4667738012	Hereditary growth hormone deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667739016	Hereditary growth hormone deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667738012	Hereditary growth hormone deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667739016	Hereditary growth hormone deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6307771000241111	déficit héréditaire en somatotropine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6307781000241113	déficit héréditaire en hormone de croissance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6307791000241110	déficit héréditaire en GH (growth hormone)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6307771000241111	déficit héréditaire en somatotropine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6307781000241113	déficit héréditaire en hormone de croissance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6307791000241110	déficit héréditaire en GH (growth hormone)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module