238874008: Neonatal pseudo-hydrocephalic progeroid syndrome (disorder)

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

\Finding by site\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Finding of body region\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Finding of body region\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder of fetus or newborn (disorder)\Disorder involving the integument of fetus OR newborn\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder of fetus or newborn (disorder)\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Congenital disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome

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	Reference Sets
358004015	Neonatal pseudo-hydrocephalic progeroid syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
358005019	Wiedemann-Rautenstrauch syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
627813012	Neonatal pseudo-hydrocephalic progeroid syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
844141000052116	neonatalt pseudohydrocefalt syndrom av progeroid typ	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Progeria	false	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Neonatal pseudo-hydrocephalic progeroid syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Premature aging syndrome (disorder)	true	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Occurrence	Neonatal	true	Inferred relationship	Some	3
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Neonatal disorder	false	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Neonatal metabolic disorder (disorder)	true	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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